{"id":"https://openalex.org/W2110090977","doi":"https://doi.org/10.1093/bioinformatics/btt409","title":"Assessing association between protein truncating variants and quantitative traits","display_name":"Assessing association between protein truncating variants and quantitative traits","publication_year":2013,"publication_date":"2013-07-16","ids":{"openalex":"https://openalex.org/W2110090977","doi":"https://doi.org/10.1093/bioinformatics/btt409","mag":"2110090977","pmid":"https://pubmed.ncbi.nlm.nih.gov/23860716"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btt409","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btt409","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/29/19/2419/48895346/bioinformatics_29_19_2419.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://academic.oup.com/bioinformatics/article-pdf/29/19/2419/48895346/bioinformatics_29_19_2419.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5073710029","display_name":"Manuel A. Rivas","orcid":"https://orcid.org/0000-0003-1457-9925"},"institutions":[{"id":"https://openalex.org/I1336263701","display_name":"Centre for Human Genetics","ror":"https://ror.org/01rjnta51","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1336263701","https://openalex.org/I40120149"]},{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]},{"id":"https://openalex.org/I4210129944","display_name":"Oxford Centre for Diabetes, Endocrinology and Metabolism","ror":"https://ror.org/03myafa32","country_code":"GB","type":"facility","lineage":["https://openalex.org/I40120149","https://openalex.org/I4210129944","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I4210133586","display_name":"Institute for Molecular Medicine Finland","ror":"https://ror.org/030sbze61","country_code":"FI","type":"facility","lineage":["https://openalex.org/I133731052","https://openalex.org/I4210133586"]}],"countries":["FI","GB"],"is_corresponding":false,"raw_author_name":"Manuel A. Rivas","raw_affiliation_strings":["1 Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, UK, 2Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00290, Finland, 3Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, Oxford OX3 7LJ, UK, 4NIHR Oxford Biomedical Research Centre, OUH Trust, Oxford OX3 7LE, UK and 5Department of Statistics, University of Oxford, Oxford OX1 3TG, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, UK, 2Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00290, Finland, 3Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, Oxford OX3 7LJ, UK, 4NIHR Oxford Biomedical Research Centre, OUH Trust, Oxford OX3 7LE, UK and 5Department of Statistics, University of Oxford, Oxford OX1 3TG, UK","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I4210129944","https://openalex.org/I4210133586","https://openalex.org/I40120149","https://openalex.org/I133731052"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064582174","display_name":"Matti Pirinen","orcid":"https://orcid.org/0000-0002-1664-1350"},"institutions":[{"id":"https://openalex.org/I1336263701","display_name":"Centre for Human Genetics","ror":"https://ror.org/01rjnta51","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1336263701","https://openalex.org/I40120149"]},{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]},{"id":"https://openalex.org/I4210129944","display_name":"Oxford Centre for Diabetes, Endocrinology and Metabolism","ror":"https://ror.org/03myafa32","country_code":"GB","type":"facility","lineage":["https://openalex.org/I40120149","https://openalex.org/I4210129944","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I4210133586","display_name":"Institute for Molecular Medicine Finland","ror":"https://ror.org/030sbze61","country_code":"FI","type":"facility","lineage":["https://openalex.org/I133731052","https://openalex.org/I4210133586"]}],"countries":["FI","GB"],"is_corresponding":false,"raw_author_name":"Matti Pirinen","raw_affiliation_strings":["1 Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, UK, 2Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00290, Finland, 3Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, Oxford OX3 7LJ, UK, 4NIHR Oxford Biomedical Research Centre, OUH Trust, Oxford OX3 7LE, UK and 5Department of Statistics, University of Oxford, Oxford OX1 3TG, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, UK, 2Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00290, Finland, 3Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, Oxford OX3 7LJ, UK, 4NIHR Oxford Biomedical Research Centre, OUH Trust, Oxford OX3 7LE, UK and 5Department of Statistics, University of Oxford, Oxford OX1 3TG, UK","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I4210129944","https://openalex.org/I4210133586","https://openalex.org/I40120149","https://openalex.org/I133731052"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108684679","display_name":"Matthew Neville","orcid":null},"institutions":[{"id":"https://openalex.org/I1336263701","display_name":"Centre for Human Genetics","ror":"https://ror.org/01rjnta51","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1336263701","https://openalex.org/I40120149"]},{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]},{"id":"https://openalex.org/I4210129944","display_name":"Oxford Centre for Diabetes, Endocrinology and Metabolism","ror":"https://ror.org/03myafa32","country_code":"GB","type":"facility","lineage":["https://openalex.org/I40120149","https://openalex.org/I4210129944","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I4210133586","display_name":"Institute for Molecular Medicine Finland","ror":"https://ror.org/030sbze61","country_code":"FI","type":"facility","lineage":["https://openalex.org/I133731052","https://openalex.org/I4210133586"]}],"countries":["FI","GB"],"is_corresponding":false,"raw_author_name":"Matthew J. Neville","raw_affiliation_strings":["1 Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, UK, 2Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00290, Finland, 3Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, Oxford OX3 7LJ, UK, 4NIHR Oxford Biomedical Research Centre, OUH Trust, Oxford OX3 7LE, UK and 5Department of Statistics, University of Oxford, Oxford OX1 3TG, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, UK, 2Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00290, Finland, 3Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, Oxford OX3 7LJ, UK, 4NIHR Oxford Biomedical Research Centre, OUH Trust, Oxford OX3 7LE, UK and 5Department of Statistics, University of Oxford, Oxford OX1 3TG, UK","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I4210129944","https://openalex.org/I4210133586","https://openalex.org/I40120149","https://openalex.org/I133731052"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054234274","display_name":"Kyle J. Gaulton","orcid":"https://orcid.org/0000-0003-1318-7161"},"institutions":[{"id":"https://openalex.org/I1336263701","display_name":"Centre for Human Genetics","ror":"https://ror.org/01rjnta51","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1336263701","https://openalex.org/I40120149"]},{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]},{"id":"https://openalex.org/I4210129944","display_name":"Oxford Centre for Diabetes, Endocrinology and Metabolism","ror":"https://ror.org/03myafa32","country_code":"GB","type":"facility","lineage":["https://openalex.org/I40120149","https://openalex.org/I4210129944","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I4210133586","display_name":"Institute for Molecular Medicine Finland","ror":"https://ror.org/030sbze61","country_code":"FI","type":"facility","lineage":["https://openalex.org/I133731052","https://openalex.org/I4210133586"]}],"countries":["FI","GB"],"is_corresponding":false,"raw_author_name":"Kyle J. Gaulton","raw_affiliation_strings":["1 Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, UK, 2Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00290, Finland, 3Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, Oxford OX3 7LJ, UK, 4NIHR Oxford Biomedical Research Centre, OUH Trust, Oxford OX3 7LE, UK and 5Department of Statistics, University of Oxford, Oxford OX1 3TG, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, UK, 2Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00290, Finland, 3Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, Oxford OX3 7LJ, UK, 4NIHR Oxford Biomedical Research Centre, OUH Trust, Oxford OX3 7LE, UK and 5Department of Statistics, University of Oxford, Oxford OX1 3TG, UK","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I4210129944","https://openalex.org/I4210133586","https://openalex.org/I40120149","https://openalex.org/I133731052"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040035281","display_name":"Loukas Moutsianas","orcid":"https://orcid.org/0000-0001-5453-345X"},"institutions":[{"id":"https://openalex.org/I1336263701","display_name":"Centre for Human Genetics","ror":"https://ror.org/01rjnta51","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1336263701","https://openalex.org/I40120149"]},{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]},{"id":"https://openalex.org/I4210129944","display_name":"Oxford Centre for Diabetes, Endocrinology and Metabolism","ror":"https://ror.org/03myafa32","country_code":"GB","type":"facility","lineage":["https://openalex.org/I40120149","https://openalex.org/I4210129944","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I4210133586","display_name":"Institute for Molecular Medicine Finland","ror":"https://ror.org/030sbze61","country_code":"FI","type":"facility","lineage":["https://openalex.org/I133731052","https://openalex.org/I4210133586"]}],"countries":["FI","GB"],"is_corresponding":false,"raw_author_name":"Loukas Moutsianas","raw_affiliation_strings":["1 Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, UK, 2Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00290, Finland, 3Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, Oxford OX3 7LJ, UK, 4NIHR Oxford Biomedical Research Centre, OUH Trust, Oxford OX3 7LE, UK and 5Department of Statistics, University of Oxford, Oxford OX1 3TG, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, UK, 2Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00290, Finland, 3Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, Oxford OX3 7LJ, UK, 4NIHR Oxford Biomedical Research Centre, OUH Trust, Oxford OX3 7LE, UK and 5Department of Statistics, University of Oxford, Oxford OX1 3TG, UK","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I4210129944","https://openalex.org/I4210133586","https://openalex.org/I40120149","https://openalex.org/I133731052"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048738826","display_name":"Cecilia M. Lindgren","orcid":"https://orcid.org/0000-0002-4903-9374"},"institutions":[{"id":"https://openalex.org/I1336263701","display_name":"Centre for Human Genetics","ror":"https://ror.org/01rjnta51","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1336263701","https://openalex.org/I40120149"]},{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]},{"id":"https://openalex.org/I4210129944","display_name":"Oxford Centre for Diabetes, Endocrinology and Metabolism","ror":"https://ror.org/03myafa32","country_code":"GB","type":"facility","lineage":["https://openalex.org/I40120149","https://openalex.org/I4210129944","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I4210133586","display_name":"Institute for Molecular Medicine Finland","ror":"https://ror.org/030sbze61","country_code":"FI","type":"facility","lineage":["https://openalex.org/I133731052","https://openalex.org/I4210133586"]}],"countries":["FI","GB"],"is_corresponding":false,"raw_author_name":"Cecilia M. Lindgren","raw_affiliation_strings":["1 Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, UK, 2Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00290, Finland, 3Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, Oxford OX3 7LJ, UK, 4NIHR Oxford Biomedical Research Centre, OUH Trust, Oxford OX3 7LE, UK and 5Department of Statistics, University of Oxford, Oxford OX1 3TG, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, UK, 2Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00290, Finland, 3Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, Oxford OX3 7LJ, UK, 4NIHR Oxford Biomedical Research Centre, OUH Trust, Oxford OX3 7LE, UK and 5Department of Statistics, University of Oxford, Oxford OX1 3TG, UK","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I4210129944","https://openalex.org/I4210133586","https://openalex.org/I40120149","https://openalex.org/I133731052"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051598717","display_name":"Fredrik Karpe","orcid":"https://orcid.org/0000-0002-2751-1770"},"institutions":[{"id":"https://openalex.org/I1336263701","display_name":"Centre for Human Genetics","ror":"https://ror.org/01rjnta51","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1336263701","https://openalex.org/I40120149"]},{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]},{"id":"https://openalex.org/I4210129944","display_name":"Oxford Centre for Diabetes, Endocrinology and Metabolism","ror":"https://ror.org/03myafa32","country_code":"GB","type":"facility","lineage":["https://openalex.org/I40120149","https://openalex.org/I4210129944","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I4210133586","display_name":"Institute for Molecular Medicine Finland","ror":"https://ror.org/030sbze61","country_code":"FI","type":"facility","lineage":["https://openalex.org/I133731052","https://openalex.org/I4210133586"]}],"countries":["FI","GB"],"is_corresponding":false,"raw_author_name":"Fredrik Karpe","raw_affiliation_strings":["1 Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, UK, 2Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00290, Finland, 3Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, Oxford OX3 7LJ, UK, 4NIHR Oxford Biomedical Research Centre, OUH Trust, Oxford OX3 7LE, UK and 5Department of Statistics, University of Oxford, Oxford OX1 3TG, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, UK, 2Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00290, Finland, 3Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, Oxford OX3 7LJ, UK, 4NIHR Oxford Biomedical Research Centre, OUH Trust, Oxford OX3 7LE, UK and 5Department of Statistics, University of Oxford, Oxford OX1 3TG, UK","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I4210129944","https://openalex.org/I4210133586","https://openalex.org/I40120149","https://openalex.org/I133731052"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064948585","display_name":"Mark I. McCarthy","orcid":"https://orcid.org/0000-0002-4393-0510"},"institutions":[{"id":"https://openalex.org/I1336263701","display_name":"Centre for Human Genetics","ror":"https://ror.org/01rjnta51","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1336263701","https://openalex.org/I40120149"]},{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]},{"id":"https://openalex.org/I4210129944","display_name":"Oxford Centre for Diabetes, Endocrinology and Metabolism","ror":"https://ror.org/03myafa32","country_code":"GB","type":"facility","lineage":["https://openalex.org/I40120149","https://openalex.org/I4210129944","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I4210133586","display_name":"Institute for Molecular Medicine Finland","ror":"https://ror.org/030sbze61","country_code":"FI","type":"facility","lineage":["https://openalex.org/I133731052","https://openalex.org/I4210133586"]}],"countries":["FI","GB"],"is_corresponding":false,"raw_author_name":"Mark I. McCarthy","raw_affiliation_strings":["1 Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, UK, 2Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00290, Finland, 3Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, Oxford OX3 7LJ, UK, 4NIHR Oxford Biomedical Research Centre, OUH Trust, Oxford OX3 7LE, UK and 5Department of Statistics, University of Oxford, Oxford OX1 3TG, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, UK, 2Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00290, Finland, 3Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, Oxford OX3 7LJ, UK, 4NIHR Oxford Biomedical Research Centre, OUH Trust, Oxford OX3 7LE, UK and 5Department of Statistics, University of Oxford, Oxford OX1 3TG, UK","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I4210129944","https://openalex.org/I4210133586","https://openalex.org/I40120149","https://openalex.org/I133731052"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5077722090","display_name":"Peter Donnelly","orcid":"https://orcid.org/0000-0001-9495-3408"},"institutions":[{"id":"https://openalex.org/I1336263701","display_name":"Centre for Human Genetics","ror":"https://ror.org/01rjnta51","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1336263701","https://openalex.org/I40120149"]},{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]},{"id":"https://openalex.org/I4210129944","display_name":"Oxford Centre for Diabetes, Endocrinology and Metabolism","ror":"https://ror.org/03myafa32","country_code":"GB","type":"facility","lineage":["https://openalex.org/I40120149","https://openalex.org/I4210129944","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I4210133586","display_name":"Institute for Molecular Medicine Finland","ror":"https://ror.org/030sbze61","country_code":"FI","type":"facility","lineage":["https://openalex.org/I133731052","https://openalex.org/I4210133586"]}],"countries":["FI","GB"],"is_corresponding":true,"raw_author_name":"Peter Donnelly","raw_affiliation_strings":["1 Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, UK, 2Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00290, Finland, 3Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, Oxford OX3 7LJ, UK, 4NIHR Oxford Biomedical Research Centre, OUH Trust, Oxford OX3 7LE, UK and 5Department of Statistics, University of Oxford, Oxford OX1 3TG, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, UK, 2Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00290, Finland, 3Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, Oxford OX3 7LJ, UK, 4NIHR Oxford Biomedical Research Centre, OUH Trust, Oxford OX3 7LE, UK and 5Department of Statistics, University of Oxford, Oxford OX1 3TG, UK","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I4210129944","https://openalex.org/I4210133586","https://openalex.org/I40120149","https://openalex.org/I133731052"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5077722090"],"corresponding_institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I133731052","https://openalex.org/I40120149","https://openalex.org/I4210129944","https://openalex.org/I4210133586"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":{"value":2137,"currency":"EUR","value_usd":2304},"fwci":0.8998,"has_fulltext":true,"cited_by_count":20,"citation_normalized_percentile":{"value":0.78253935,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"29","issue":"19","first_page":"2419","last_page":"2426"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.680899977684021,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.680899977684021,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.3005000054836273,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.0020000000949949026,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/quantitative-trait-locus","display_name":"Quantitative trait locus","score":0.6627715229988098},{"id":"https://openalex.org/keywords/genetic-association","display_name":"Genetic association","score":0.662382185459137},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5820600390434265},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.5696831345558167},{"id":"https://openalex.org/keywords/trait","display_name":"Trait","score":0.5089523792266846},{"id":"https://openalex.org/keywords/bayesian-probability","display_name":"Bayesian probability","score":0.47868162393569946},{"id":"https://openalex.org/keywords/association-test","display_name":"Association test","score":0.4640006422996521},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.46058765053749084},{"id":"https://openalex.org/keywords/genome-wide-association-study","display_name":"Genome-wide association study","score":0.44947075843811035},{"id":"https://openalex.org/keywords/exome-sequencing","display_name":"Exome sequencing","score":0.4117090106010437},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.3577061891555786},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.2684837877750397},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.24690979719161987},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.21060535311698914},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.12569108605384827},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.10896429419517517}],"concepts":[{"id":"https://openalex.org/C81941488","wikidata":"https://www.wikidata.org/wiki/Q853421","display_name":"Quantitative trait locus","level":3,"score":0.6627715229988098},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.662382185459137},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5820600390434265},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5696831345558167},{"id":"https://openalex.org/C106934330","wikidata":"https://www.wikidata.org/wiki/Q1971873","display_name":"Trait","level":2,"score":0.5089523792266846},{"id":"https://openalex.org/C107673813","wikidata":"https://www.wikidata.org/wiki/Q812534","display_name":"Bayesian probability","level":2,"score":0.47868162393569946},{"id":"https://openalex.org/C2994538360","wikidata":"https://www.wikidata.org/wiki/Q774081","display_name":"Association test","level":5,"score":0.4640006422996521},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.46058765053749084},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.44947075843811035},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.4117090106010437},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.3577061891555786},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2684837877750397},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.24690979719161987},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.21060535311698914},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.12569108605384827},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.10896429419517517},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D001499","descriptor_name":"Bayes Theorem","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001499","descriptor_name":"Bayes Theorem","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001499","descriptor_name":"Bayes Theorem","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003924","descriptor_name":"Diabetes Mellitus, Type 2","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D003924","descriptor_name":"Diabetes Mellitus, Type 2","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D003924","descriptor_name":"Diabetes Mellitus, Type 2","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D003924","descriptor_name":"Diabetes Mellitus, Type 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003924","descriptor_name":"Diabetes Mellitus, Type 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003924","descriptor_name":"Diabetes Mellitus, Type 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008957","descriptor_name":"Models, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008957","descriptor_name":"Models, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008957","descriptor_name":"Models, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012985","descriptor_name":"Software Design","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012985","descriptor_name":"Software Design","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012985","descriptor_name":"Software Design","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014280","descriptor_name":"Triglycerides","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D014280","descriptor_name":"Triglycerides","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D014280","descriptor_name":"Triglycerides","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D040641","descriptor_name":"Quantitative Trait Loci","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D040641","descriptor_name":"Quantitative Trait Loci","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D040641","descriptor_name":"Quantitative Trait Loci","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D053305","descriptor_name":"Apolipoprotein C-III","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D053305","descriptor_name":"Apolipoprotein C-III","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D053305","descriptor_name":"Apolipoprotein C-III","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":7,"locations":[{"id":"doi:10.1093/bioinformatics/btt409","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btt409","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/29/19/2419/48895346/bioinformatics_29_19_2419.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:23860716","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23860716","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics (Oxford, England)","raw_type":null},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.867.121","is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.867.121","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://bioinformatics.oxfordjournals.org/content/early/2013/07/15/bioinformatics.btt409.full.pdf","raw_type":"text"},{"id":"pmh:oai:europepmc.org:2770111","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3777107","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:mediatum.ub.tum.de:node/1426228","is_oa":true,"landing_page_url":"http://mediatum.ub.tum.de/node?id=1426228","pdf_url":null,"source":{"id":"https://openalex.org/S4377196330","display_name":"mediaTUM  (Technical University of Munich)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I62916508","host_organization_name":"Technical University of Munich","host_organization_lineage":["https://openalex.org/I62916508"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"article"},{"id":"pmh:oai:opus-zb.helmholtz-muenchen.de:43142","is_oa":true,"landing_page_url":"https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=43142","pdf_url":null,"source":{"id":"https://openalex.org/S4377196115","display_name":"Site cant be reached","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics 29, 2419-2426 (2013)","raw_type":"article"},{"id":"pmh:oai:ora.ox.ac.uk:uuid:4222e888-0c9d-4c15-8782-6412605c44a9","is_oa":true,"landing_page_url":"https://ora.ox.ac.uk/objects/uuid:4222e888-0c9d-4c15-8782-6412605c44a9","pdf_url":null,"source":{"id":"https://openalex.org/S4306402636","display_name":"Oxford University Research Archive (ORA) (University of Oxford)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I40120149","host_organization_name":"University of Oxford","host_organization_lineage":["https://openalex.org/I40120149"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PubMed (http://www.ncbi.nlm.nih.gov/pubmed/)","raw_type":"Journal article"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btt409","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btt409","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/29/19/2419/48895346/bioinformatics_29_19_2419.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G1066566007","display_name":null,"funder_award_id":"085475/Z/08/Z","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G1079093336","display_name":null,"funder_award_id":"095552/Z/11/Z","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G1985928226","display_name":"Next-Generation Disease Association Analyses: Low pass Sequencing and High Density SNP genotyping for type 2 diabetes .","funder_award_id":"090367","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G2288589777","display_name":"WTCCC2 core activities","funder_award_id":"085475","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G2502254555","display_name":"Characterising causal alleles for common disease.","funder_award_id":"098381","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G3244737412","display_name":null,"funder_award_id":"09831","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G3246095047","display_name":"An investigation of genes in key beta-cell pathways following the type 2 diabetes WTCCC genome wide association study.","funder_award_id":"083270","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G3673804865","display_name":null,"funder_award_id":"090532","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G4765374332","display_name":null,"funder_award_id":"R01 DK098032","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G4826739296","display_name":null,"funder_award_id":"086596/Z/08/Z","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G506596658","display_name":"Statistical methods development and analysis of genomic data in health and disease.","funder_award_id":"095552","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G5146593702","display_name":null,"funder_award_id":"075491/Z/04/B","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G5594960057","display_name":null,"funder_award_id":"G0601261","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G6728599356","display_name":null,"funder_award_id":"RC2-HG005688","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G7004411822","display_name":"Understanding the genetic basis of common human diseases: core funding for the Wellcome Trust Centre for Human Genetics.","funder_award_id":"090532","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G7119940588","display_name":null,"funder_award_id":"085475/B/08/Z","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G7650667963","display_name":null,"funder_award_id":"257654","funder_id":"https://openalex.org/F4320321108","funder_display_name":"Academy of Finland"},{"id":"https://openalex.org/G7717239416","display_name":null,"funder_award_id":"RC2 DK088389","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G8946600302","display_name":null,"funder_award_id":"090532/Z/09/Z","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G8975541179","display_name":null,"funder_award_id":"090532/Z/09/","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G8987205718","display_name":"The genetics of weight, BMI, adiposity and obesity","funder_award_id":"076113","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"}],"funders":[{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"},{"id":"https://openalex.org/F4320314070","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142"},{"id":"https://openalex.org/F4320320006","display_name":"Royal Society","ror":"https://ror.org/03wnrjx87"},{"id":"https://openalex.org/F4320320290","display_name":"University of Oxford","ror":"https://ror.org/052gg0110"},{"id":"https://openalex.org/F4320321108","display_name":"Academy of Finland","ror":"https://ror.org/05k73zm37"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2110090977.pdf","grobid_xml":"https://content.openalex.org/works/W2110090977.grobid-xml"},"referenced_works_count":30,"referenced_works":["https://openalex.org/W1980740976","https://openalex.org/W1981231263","https://openalex.org/W2003934444","https://openalex.org/W2020040634","https://openalex.org/W2057024071","https://openalex.org/W2057141194","https://openalex.org/W2058148991","https://openalex.org/W2059145105","https://openalex.org/W2060512257","https://openalex.org/W2061100095","https://openalex.org/W2064994526","https://openalex.org/W2066199795","https://openalex.org/W2096465161","https://openalex.org/W2097804771","https://openalex.org/W2100909778","https://openalex.org/W2102140136","https://openalex.org/W2103441770","https://openalex.org/W2106937178","https://openalex.org/W2126608715","https://openalex.org/W2140872369","https://openalex.org/W2143602768","https://openalex.org/W2143962878","https://openalex.org/W2147698885","https://openalex.org/W2154755614","https://openalex.org/W2159054534","https://openalex.org/W2163953557","https://openalex.org/W2167989424","https://openalex.org/W2168133698","https://openalex.org/W2169024565","https://openalex.org/W4247053599"],"related_works":["https://openalex.org/W1971424770","https://openalex.org/W2111842731","https://openalex.org/W2066467839","https://openalex.org/W2594299395","https://openalex.org/W2771541573","https://openalex.org/W2765794416","https://openalex.org/W2170506381","https://openalex.org/W2039666944","https://openalex.org/W1531630856","https://openalex.org/W2794350630"],"abstract_inverted_index":{"MOTIVATION:":[0],"In":[1],"sequencing":[2],"studies":[3,96],"of":[4,111,122,133,169],"common":[5,25],"diseases":[6],"and":[7,14,47,61,67,119,137,162,165,176],"quantitative":[8,62,120,138],"traits,":[9],"power":[10],"to":[11,28,43,51,71,87,108,160],"test":[12],"rare":[13,59],"low":[15,172],"frequency":[16],"variants":[17,35,60,136,179],"individually":[18],"is":[19,27,186],"weak.":[20],"To":[21],"improve":[22],"power,":[23],"a":[24,37,76,126],"approach":[26],"combine":[29],"statistical":[30,49],"evidence":[31,168],"from":[32,188],"several":[33],"genetic":[34],"in":[36],"region.":[38],"Major":[39],"challenges":[40],"are":[41],"how":[42],"do":[44],"the":[45,99,131,152],"combining":[46],"which":[48],"framework":[50,129],"use.":[52],"General":[53],"approaches":[54],"for":[55,91,130],"testing":[56],"association":[57,170],"between":[58,171],"traits":[63],"include":[64],"aggregating":[65],"genotypes":[66],"trait":[68],"values,":[69],"referred":[70,107],"as":[72,109],"'collapsing',":[73],"or":[74],"using":[75],"score-based":[77],"variance":[78],"component":[79],"test.":[80],"However,":[81],"little":[82],"attention":[83],"has":[84],"been":[85],"paid":[86],"alternative":[88],"models":[89,147,159],"tailored":[90],"protein":[92,103,134,177],"truncating":[93,104,135,178],"variants.":[94],"Recent":[95],"have":[97,115,148],"highlighted":[98],"important":[100],"role":[101],"that":[102,145],"variants,":[105,113],"commonly":[106,153],"'loss":[110],"function'":[112],"may":[114],"on":[116],"disease":[117],"susceptibility":[118],"levels":[121,175],"biomarkers.":[123],"We":[124,156],"propose":[125],"Bayesian":[127],"modelling":[128],"analysis":[132],"traits.":[139],"RESULTS:":[140],"Our":[141],"simulation":[142],"results":[143],"show":[144],"our":[146,158],"an":[149],"advantage":[150],"over":[151],"used":[154],"methods.":[155],"apply":[157],"sequence":[161],"exome-array":[163],"data":[164],"discover":[166],"strong":[167],"plasma":[173],"triglyceride":[174],"at":[180],"APOC3":[181],"(Apolipoprotein":[182],"C3).":[183],"AVAILABILITY:":[184],"Software":[185],"available":[187],"http://www.well.ox.ac.uk/~rivas/mamba":[189]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":3},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":2}],"updated_date":"2026-06-16T07:32:37.131356","created_date":"2025-10-10T00:00:00"}