{"id":"https://openalex.org/W4284881663","doi":"https://doi.org/10.1038/s41467-022-31392-3","title":"The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism","display_name":"The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism","publication_year":2022,"publication_date":"2022-07-08","ids":{"openalex":"https://openalex.org/W4284881663","doi":"https://doi.org/10.1038/s41467-022-31392-3","pmid":"https://pubmed.ncbi.nlm.nih.gov/35803923","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/9270319"},"language":"en","primary_location":{"id":"doi:10.1038/s41467-022-31392-3","doi":"https://doi.org/10.1038/s41467-022-31392-3","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41467-022-31392-3","pdf_url":"https://www.nature.com/articles/s41467-022-31392-3.pdf","source":{"id":"https://openalex.org/S64187185","display_name":"Nature Communications","issn_l":"2041-1723","issn":["2041-1723"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Communications","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.nature.com/articles/s41467-022-31392-3.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5089119336","display_name":"Vincent Michaud","orcid":"https://orcid.org/0000-0002-5788-392X","observed_orcids":["https://orcid.org/0000-0002-5788-392X","https://orcid.org/0000-0002-3384-7182"]},"institutions":[{"id":"https://openalex.org/I15057530","display_name":"Universit\u00e9 de Bordeaux","ror":"https://ror.org/057qpr032","country_code":"FR","type":"education","lineage":["https://openalex.org/I15057530"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I3018323443","display_name":"Centre Hospitalier Universitaire de Bordeaux","ror":"https://ror.org/01hq89f96","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018323443"]},{"id":"https://openalex.org/I4387155295","display_name":"Maladies Rares: G\u00e9n\u00e9tique et M\u00e9tabolisme","ror":"https://ror.org/01wvg5605","country_code":"FR","type":"facility","lineage":["https://openalex.org/I15057530","https://openalex.org/I154526488","https://openalex.org/I4387155295"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Vincent Michaud","raw_affiliation_strings":["Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France","INSERM U1211, Rare Diseases, Genetics and Metabolism, University of Bordeaux, Bordeaux, France","CHU Bordeaux (12 rue Dubernat\r\n33400 Talence - France)","U1211 INSERM/MRGM - Laboratoire Maladies Rares: G\u00e9n\u00e9tique et M\u00e9tabolisme (Bordeaux) (France)"],"raw_orcid":"https://orcid.org/0000-0002-5788-392X","affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France","institution_ids":["https://openalex.org/I3018323443"]},{"raw_affiliation_string":"INSERM U1211, Rare Diseases, Genetics and Metabolism, University of Bordeaux, Bordeaux, France","institution_ids":["https://openalex.org/I15057530","https://openalex.org/I154526488","https://openalex.org/I4387155295"]},{"raw_affiliation_string":"CHU Bordeaux (12 rue Dubernat\r\n33400 Talence - France)","institution_ids":["https://openalex.org/I3018323443"]},{"raw_affiliation_string":"U1211 INSERM/MRGM - Laboratoire Maladies Rares: G\u00e9n\u00e9tique et M\u00e9tabolisme (Bordeaux) (France)","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4387155295"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088960181","display_name":"Eulalie Lasseaux","orcid":"https://orcid.org/0000-0002-4475-5099","observed_orcids":["https://orcid.org/0000-0002-4475-5099"]},"institutions":[{"id":"https://openalex.org/I3018323443","display_name":"Centre Hospitalier Universitaire de Bordeaux","ror":"https://ror.org/01hq89f96","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018323443"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Eulalie Lasseaux","raw_affiliation_strings":["Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France","CHU Bordeaux (12 rue Dubernat\r\n33400 Talence - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France","institution_ids":["https://openalex.org/I3018323443"]},{"raw_affiliation_string":"CHU Bordeaux (12 rue Dubernat\r\n33400 Talence - France)","institution_ids":["https://openalex.org/I3018323443"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100340818","display_name":"David J. Green","orcid":"https://orcid.org/0000-0002-7408-058X","observed_orcids":["https://orcid.org/0000-0002-7408-058X"]},"institutions":[{"id":"https://openalex.org/I28407311","display_name":"University of Manchester","ror":"https://ror.org/027m9bs27","country_code":"GB","type":"education","lineage":["https://openalex.org/I28407311"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"David J. Green","raw_affiliation_strings":["Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK","University of Manchester [Manchester] (Oxford Rd, Manchester M13 9PL - United Kingdom)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK","institution_ids":["https://openalex.org/I28407311"]},{"raw_affiliation_string":"University of Manchester [Manchester] (Oxford Rd, Manchester M13 9PL - United Kingdom)","institution_ids":["https://openalex.org/I28407311"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045373288","display_name":"Dave T. Gerrard","orcid":"https://orcid.org/0000-0001-6890-7213","observed_orcids":["https://orcid.org/0000-0001-6890-7213"]},"institutions":[{"id":"https://openalex.org/I28407311","display_name":"University of Manchester","ror":"https://ror.org/027m9bs27","country_code":"GB","type":"education","lineage":["https://openalex.org/I28407311"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Dave T. Gerrard","raw_affiliation_strings":["Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK","University of Manchester [Manchester] (Oxford Rd, Manchester M13 9PL - United Kingdom)"],"raw_orcid":"https://orcid.org/0000-0001-6890-7213","affiliations":[{"raw_affiliation_string":"Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK","institution_ids":["https://openalex.org/I28407311"]},{"raw_affiliation_string":"University of Manchester [Manchester] (Oxford Rd, Manchester M13 9PL - United Kingdom)","institution_ids":["https://openalex.org/I28407311"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030672403","display_name":"Claudio Plaisant","orcid":"https://orcid.org/0000-0002-1293-6717","observed_orcids":["https://orcid.org/0000-0002-1293-6717"]},"institutions":[{"id":"https://openalex.org/I3018323443","display_name":"Centre Hospitalier Universitaire de Bordeaux","ror":"https://ror.org/01hq89f96","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018323443"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Claudio Plaisant","raw_affiliation_strings":["Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France","CHU Bordeaux (12 rue Dubernat\r\n33400 Talence - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France","institution_ids":["https://openalex.org/I3018323443"]},{"raw_affiliation_string":"CHU Bordeaux (12 rue Dubernat\r\n33400 Talence - France)","institution_ids":["https://openalex.org/I3018323443"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006738515","display_name":"Tomas W. Fitzgerald","orcid":"https://orcid.org/0000-0002-2370-8496","observed_orcids":["https://orcid.org/0000-0002-2370-8496"]},"institutions":[{"id":"https://openalex.org/I1303153112","display_name":"European Bioinformatics Institute","ror":"https://ror.org/02catss52","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1303153112","https://openalex.org/I4210138560"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Tomas Fitzgerald","raw_affiliation_strings":["European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL- EBI), Wellcome Genome Campus, Cambridge, UK","EMBL-EBI - European Bioinformatics Institute [Hinxton] (EMBL-EBI, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, UK - United Kingdom)"],"raw_orcid":"https://orcid.org/0000-0002-2370-8496","affiliations":[{"raw_affiliation_string":"European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL- EBI), Wellcome Genome Campus, Cambridge, UK","institution_ids":["https://openalex.org/I1303153112"]},{"raw_affiliation_string":"EMBL-EBI - European Bioinformatics Institute [Hinxton] (EMBL-EBI, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, UK - United Kingdom)","institution_ids":["https://openalex.org/I1303153112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061379058","display_name":"Ewan Birney","orcid":"https://orcid.org/0000-0001-8314-8497","observed_orcids":["https://orcid.org/0000-0001-8314-8497"]},"institutions":[{"id":"https://openalex.org/I1303153112","display_name":"European Bioinformatics Institute","ror":"https://ror.org/02catss52","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1303153112","https://openalex.org/I4210138560"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Ewan Birney","raw_affiliation_strings":["European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL- EBI), Wellcome Genome Campus, Cambridge, UK","EMBL-EBI - European Bioinformatics Institute [Hinxton] (EMBL-EBI, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, UK - United Kingdom)"],"raw_orcid":"https://orcid.org/0000-0001-8314-8497","affiliations":[{"raw_affiliation_string":"European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL- EBI), Wellcome Genome Campus, Cambridge, UK","institution_ids":["https://openalex.org/I1303153112"]},{"raw_affiliation_string":"EMBL-EBI - European Bioinformatics Institute [Hinxton] (EMBL-EBI, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, UK - United Kingdom)","institution_ids":["https://openalex.org/I1303153112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012306919","display_name":"Beno\u0131\u0302t Arveiler","orcid":"https://orcid.org/0000-0002-2987-2932","observed_orcids":["https://orcid.org/0000-0002-2987-2932"]},"institutions":[{"id":"https://openalex.org/I15057530","display_name":"Universit\u00e9 de Bordeaux","ror":"https://ror.org/057qpr032","country_code":"FR","type":"education","lineage":["https://openalex.org/I15057530"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I3018323443","display_name":"Centre Hospitalier Universitaire de Bordeaux","ror":"https://ror.org/01hq89f96","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018323443"]},{"id":"https://openalex.org/I4387155295","display_name":"Maladies Rares: G\u00e9n\u00e9tique et M\u00e9tabolisme","ror":"https://ror.org/01wvg5605","country_code":"FR","type":"facility","lineage":["https://openalex.org/I15057530","https://openalex.org/I154526488","https://openalex.org/I4387155295"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Beno\u00eet Arveiler","raw_affiliation_strings":["Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France. benoit.arveiler@chu-bordeaux.fr","INSERM U1211, Rare Diseases, Genetics and Metabolism, University of Bordeaux, Bordeaux, France. benoit.arveiler@chu-bordeaux.fr","CHU Bordeaux (12 rue Dubernat\r\n33400 Talence - France)","U1211 INSERM/MRGM - Laboratoire Maladies Rares: G\u00e9n\u00e9tique et M\u00e9tabolisme (Bordeaux) (France)"],"raw_orcid":"https://orcid.org/0000-0002-2987-2932","affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France. benoit.arveiler@chu-bordeaux.fr","institution_ids":["https://openalex.org/I3018323443"]},{"raw_affiliation_string":"INSERM U1211, Rare Diseases, Genetics and Metabolism, University of Bordeaux, Bordeaux, France. benoit.arveiler@chu-bordeaux.fr","institution_ids":["https://openalex.org/I15057530","https://openalex.org/I154526488","https://openalex.org/I4387155295"]},{"raw_affiliation_string":"CHU Bordeaux (12 rue Dubernat\r\n33400 Talence - France)","institution_ids":["https://openalex.org/I3018323443"]},{"raw_affiliation_string":"U1211 INSERM/MRGM - Laboratoire Maladies Rares: G\u00e9n\u00e9tique et M\u00e9tabolisme (Bordeaux) (France)","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4387155295"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033873486","display_name":"Graeme Charles M. Black","orcid":"https://orcid.org/0000-0001-8727-6592","observed_orcids":["https://orcid.org/0000-0001-8727-6592","https://orcid.org/0000-0003-3435-2621"]},"institutions":[{"id":"https://openalex.org/I28407311","display_name":"University of Manchester","ror":"https://ror.org/027m9bs27","country_code":"GB","type":"education","lineage":["https://openalex.org/I28407311"]},{"id":"https://openalex.org/I4210087748","display_name":"St Mary's Hospital","ror":"https://ror.org/001x4vz59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800602287","https://openalex.org/I4210087748","https://openalex.org/I4210092852"]},{"id":"https://openalex.org/I4210092852","display_name":"Manchester University NHS Foundation Trust","ror":"https://ror.org/00he80998","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210092852"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Graeme C. Black","raw_affiliation_strings":["Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK. graeme.black@manchester.ac.uk","Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK. graeme.black@manchester.ac.uk","MFT - Manchester University NHS Foundation Trust (United Kingdom)","University of Manchester [Manchester] (Oxford Rd, Manchester M13 9PL - United Kingdom)"],"raw_orcid":"https://orcid.org/0000-0001-8727-6592","affiliations":[{"raw_affiliation_string":"Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK. graeme.black@manchester.ac.uk","institution_ids":["https://openalex.org/I28407311"]},{"raw_affiliation_string":"Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK. graeme.black@manchester.ac.uk","institution_ids":["https://openalex.org/I4210087748","https://openalex.org/I4210092852"]},{"raw_affiliation_string":"MFT - Manchester University NHS Foundation Trust (United Kingdom)","institution_ids":["https://openalex.org/I4210092852"]},{"raw_affiliation_string":"University of Manchester [Manchester] (Oxford Rd, Manchester M13 9PL - United Kingdom)","institution_ids":["https://openalex.org/I28407311"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5085779691","display_name":"Panagiotis I. Sergouniotis","orcid":"https://orcid.org/0000-0003-0986-4123","observed_orcids":["https://orcid.org/0000-0003-0986-4123"]},"institutions":[{"id":"https://openalex.org/I1303153112","display_name":"European Bioinformatics Institute","ror":"https://ror.org/02catss52","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1303153112","https://openalex.org/I4210138560"]},{"id":"https://openalex.org/I2801704036","display_name":"Manchester Royal Eye Hospital","ror":"https://ror.org/04xtpk854","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2801704036","https://openalex.org/I4210092852","https://openalex.org/I4210166818"]},{"id":"https://openalex.org/I28407311","display_name":"University of Manchester","ror":"https://ror.org/027m9bs27","country_code":"GB","type":"education","lineage":["https://openalex.org/I28407311"]},{"id":"https://openalex.org/I4210087748","display_name":"St Mary's Hospital","ror":"https://ror.org/001x4vz59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800602287","https://openalex.org/I4210087748","https://openalex.org/I4210092852"]},{"id":"https://openalex.org/I4210092852","display_name":"Manchester University NHS Foundation Trust","ror":"https://ror.org/00he80998","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210092852"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Panagiotis I. Sergouniotis","raw_affiliation_strings":["Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK. panagiotis.sergouniotis@manchester.ac.uk","European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL- EBI), Wellcome Genome Campus, Cambridge, UK. panagiotis.sergouniotis@manchester.ac.uk","Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK. panagiotis.sergouniotis@manchester.ac.uk","Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK. panagiotis.sergouniotis@manchester.ac.uk","EMBL-EBI - European Bioinformatics Institute [Hinxton] (EMBL-EBI, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, UK - United Kingdom)","MFT - Manchester University NHS Foundation Trust (United Kingdom)","University of Manchester [Manchester] (Oxford Rd, Manchester M13 9PL - United Kingdom)"],"raw_orcid":"https://orcid.org/0000-0003-0986-4123","affiliations":[{"raw_affiliation_string":"Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK. panagiotis.sergouniotis@manchester.ac.uk","institution_ids":["https://openalex.org/I28407311"]},{"raw_affiliation_string":"European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL- EBI), Wellcome Genome Campus, Cambridge, UK. panagiotis.sergouniotis@manchester.ac.uk","institution_ids":["https://openalex.org/I1303153112"]},{"raw_affiliation_string":"Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK. panagiotis.sergouniotis@manchester.ac.uk","institution_ids":["https://openalex.org/I4210087748","https://openalex.org/I4210092852"]},{"raw_affiliation_string":"Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK. panagiotis.sergouniotis@manchester.ac.uk","institution_ids":["https://openalex.org/I2801704036","https://openalex.org/I4210092852"]},{"raw_affiliation_string":"EMBL-EBI - European Bioinformatics Institute [Hinxton] (EMBL-EBI, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, UK - United Kingdom)","institution_ids":["https://openalex.org/I1303153112"]},{"raw_affiliation_string":"MFT - Manchester University NHS Foundation Trust (United Kingdom)","institution_ids":["https://openalex.org/I4210092852"]},{"raw_affiliation_string":"University of Manchester [Manchester] (Oxford Rd, Manchester M13 9PL - United Kingdom)","institution_ids":["https://openalex.org/I28407311"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":9,"corresponding_author_ids":["https://openalex.org/A5012306919","https://openalex.org/A5033873486","https://openalex.org/A5085779691"],"corresponding_institution_ids":["https://openalex.org/I1303153112","https://openalex.org/I15057530","https://openalex.org/I154526488","https://openalex.org/I2801704036","https://openalex.org/I28407311","https://openalex.org/I3018323443","https://openalex.org/I4210087748","https://openalex.org/I4210092852","https://openalex.org/I4387155295"],"apc_list":{"value":5890,"currency":"USD","value_usd":5890},"apc_paid":{"value":5890,"currency":"USD","value_usd":5890},"fwci":6.8162,"has_fulltext":true,"cited_by_count":59,"citation_normalized_percentile":{"value":0.98441132,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":98,"max":100},"biblio":{"volume":"13","issue":"1","first_page":"3939","last_page":"3939"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11144","display_name":"melanin and skin pigmentation","score":0.9023000001907349,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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"}},"topics":[{"id":"https://openalex.org/T11144","display_name":"melanin and skin pigmentation","score":0.9023000001907349,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.07989999651908875,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.008799999952316284,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/albinism","display_name":"albinism","score":0.996999979019165},{"id":"https://openalex.org/keywords/tyr-gene","display_name":"TYR gene","score":0.7929999828338623},{"id":"https://openalex.org/keywords/tyrosinase","display_name":"tyrosinase","score":0.9950000047683716},{"id":"https://openalex.org/keywords/genetic-architecture","display_name":"genetic architecture","score":0.7459999918937683},{"id":"https://openalex.org/keywords/haplotype-homozygosity","display_name":"haplotype homozygosity","score":0.8550000190734863},{"id":"https://openalex.org/keywords/penetrance","display_name":"penetrance","score":0.8460000157356262},{"id":"https://openalex.org/keywords/visual-acuity","display_name":"visual acuity","score":0.8679999709129333},{"id":"https://openalex.org/keywords/central-retinal-thickness","display_name":"central retinal thickness","score":0.9639999866485596},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.6349999904632568},{"id":"https://openalex.org/keywords/diagnostic-yield","display_name":"diagnostic yield","score":0.6119999885559082},{"id":"https://openalex.org/keywords/rare-mendelian-disorders","display_name":"rare Mendelian disorders","score":0.6660000085830688}],"concepts":[{"id":"https://openalex.org/C2775902910","wikidata":"https://www.wikidata.org/wiki/Q81867","display_name":"Albinism","level":2,"score":0.8128288984298706},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7021843194961548},{"id":"https://openalex.org/C9287583","wikidata":"https://www.wikidata.org/wiki/Q5532883","display_name":"Genetic architecture","level":4,"score":0.639458179473877},{"id":"https://openalex.org/C97425143","wikidata":"https://www.wikidata.org/wiki/Q164786","display_name":"1000 Genomes Project","level":5,"score":0.6234238743782043},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6058571338653564},{"id":"https://openalex.org/C200544954","wikidata":"https://www.wikidata.org/wiki/Q516389","display_name":"Penetrance","level":4,"score":0.5806832313537598},{"id":"https://openalex.org/C175783326","wikidata":"https://www.wikidata.org/wiki/Q185055","display_name":"Mendelian inheritance","level":3,"score":0.5646295547485352},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.5261649489402771},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.5047429800033569},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.5038964152336121},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.49318069219589233},{"id":"https://openalex.org/C191791410","wikidata":"https://www.wikidata.org/wiki/Q241953","display_name":"OMIM : Online Mendelian Inheritance in Man","level":4,"score":0.47271960973739624},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4278717339038849},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.40109431743621826},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.3499634861946106},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.2465345859527588},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2116280198097229},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.20542508363723755}],"mesh":[{"descriptor_ui":"D000417","descriptor_name":"Albinism","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000417","descriptor_name":"Albinism","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000417","descriptor_name":"Albinism","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000417","descriptor_name":"Albinism","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000417","descriptor_name":"Albinism","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000417","descriptor_name":"Albinism","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":"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":"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":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","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":"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":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014442","descriptor_name":"Monophenol Monooxygenase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014442","descriptor_name":"Monophenol Monooxygenase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014442","descriptor_name":"Monophenol Monooxygenase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014442","descriptor_name":"Monophenol Monooxygenase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014442","descriptor_name":"Monophenol Monooxygenase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014442","descriptor_name":"Monophenol Monooxygenase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016115","descriptor_name":"Albinism, Oculocutaneous","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016115","descriptor_name":"Albinism, Oculocutaneous","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016115","descriptor_name":"Albinism, Oculocutaneous","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016115","descriptor_name":"Albinism, Oculocutaneous","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016115","descriptor_name":"Albinism, Oculocutaneous","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016115","descriptor_name":"Albinism, Oculocutaneous","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D050505","descriptor_name":"Mutant Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D050505","descriptor_name":"Mutant Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D050505","descriptor_name":"Mutant Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D050505","descriptor_name":"Mutant Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D050505","descriptor_name":"Mutant Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D050505","descriptor_name":"Mutant Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":9,"locations":[{"id":"doi:10.1038/s41467-022-31392-3","doi":"https://doi.org/10.1038/s41467-022-31392-3","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41467-022-31392-3","pdf_url":"https://www.nature.com/articles/s41467-022-31392-3.pdf","source":{"id":"https://openalex.org/S64187185","display_name":"Nature Communications","issn_l":"2041-1723","issn":["2041-1723"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Communications","raw_type":"journal-article"},{"id":"doi:10.1101/2021.11.01.21265733","doi":"https://doi.org/10.1101/2021.11.01.21265733","is_oa":true,"landing_page_url":"https://doi.org/10.1101/2021.11.01.21265733","pdf_url":"https://www.medrxiv.org/content/medrxiv/early/2022/03/28/2021.11.01.21265733.full.pdf","source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"},{"id":"pmh:oai:pubmedcentral.nih.gov:9270319","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9270319","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nat Commun","raw_type":"Text"},{"id":"pmid:35803923","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35803923","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,"listed_in":[],"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":"Nature communications","raw_type":"Journal Article"},{"id":"pmh:oai:oskar-bordeaux.fr:20.500.12278/183300","doi":null,"is_oa":true,"landing_page_url":"https://oskar-bordeaux.fr/handle/20.500.12278/183300","pdf_url":"https://oskar-bordeaux.fr/bitstream/20.500.12278/183300/1/MRGM_Nature%20communications_2022_Michaud.pdf","source":{"id":"https://openalex.org/S4306402569","display_name":"Oskar-Bordeaux (Universite de Bordeaux)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I15057530","host_organization_name":"Universit\u00e9 de Bordeaux","host_organization_lineage":["https://openalex.org/I15057530"],"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 de revue"},{"id":"pmh:oai:HAL:hal-04151766v1","doi":null,"is_oa":true,"landing_page_url":"https://hal.science/hal-04151766","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4405252976","host_organization_name":"Centre pour la Communication Scientifique Directe","host_organization_lineage":["https://openalex.org/I4405252976"],"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":"Nature Communications, 2022, 13 (1), pp.3939. ⟨10.1038/s41467-022-31392-3⟩","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:RePEc:nat:natcom:v:13:y:2022:i:1:d:10.1038_s41467-022-31392-3","doi":null,"is_oa":false,"landing_page_url":"https://www.nature.com/articles/s41467-022-31392-3","pdf_url":null,"source":{"id":"https://openalex.org/S4306401271","display_name":"RePEc: Research Papers in Economics","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I77793887","host_organization_name":"Federal Reserve Bank of St. Louis","host_organization_lineage":["https://openalex.org/I77793887"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article"},{"id":"pmh:oai:doaj.org/article:01831573c4ab4a8191b1243d40df0a50","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/01831573c4ab4a8191b1243d40df0a50","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nature Communications, Vol 13, Iss 1, Pp 1-8 (2022)","raw_type":"article"},{"id":"pmh:oai:pure.atira.dk:openaire_cris_publications/7d7f2963-73a6-4c4b-befb-e7bd52411b47","doi":null,"is_oa":false,"landing_page_url":"https://research.manchester.ac.uk/en/publications/7d7f2963-73a6-4c4b-befb-e7bd52411b47","pdf_url":null,"source":{"id":"https://openalex.org/S4306400662","display_name":"Research Explorer (The University of Manchester)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I28407311","host_organization_name":"University of Manchester","host_organization_lineage":["https://openalex.org/I28407311"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Michaud, V, Lasseaux, E, Green, D, Gerrard, D T, Plaisant, C, -, UK B E A V C, Fitzgerald, T, Birney, E, Arveiler, B & Black, G 2021 'The contribution of common regulatory and protein-coding TYR variants in the genetic architecture of albinism' medRxiv. https://doi.org/10.1101/2021.11.01.21265733","raw_type":"info:eu-repo/semantics/preprint"}],"best_oa_location":{"id":"doi:10.1038/s41467-022-31392-3","doi":"https://doi.org/10.1038/s41467-022-31392-3","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41467-022-31392-3","pdf_url":"https://www.nature.com/articles/s41467-022-31392-3.pdf","source":{"id":"https://openalex.org/S64187185","display_name":"Nature Communications","issn_l":"2041-1723","issn":["2041-1723"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Communications","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.6240000128746033,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G1036172374","display_name":null,"funder_award_id":"CL-2017-06-001","funder_id":"https://openalex.org/F4320319990","funder_display_name":"National Institute for Health and Care Research"},{"id":"https://openalex.org/G195474297","display_name":null,"funder_award_id":"2017-","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"},{"id":"https://openalex.org/G3890974333","display_name":null,"funder_award_id":"ANR-21-CE17-0041-01","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G5690769663","display_name":null,"funder_award_id":"GR586","funder_id":"https://openalex.org/F4320320027","funder_display_name":"Retina UK"},{"id":"https://openalex.org/G5850737185","display_name":null,"funder_award_id":"MC_PC_17228","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G6031523392","display_name":"Designing, developing and delivering integrated foundations for genomic medicine","funder_award_id":"200990","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G6215174865","display_name":"Combining molecular and functional genetics to decipher pathophysiological mechanisms in oculocutaneous albinism.","funder_award_id":"ANR-21-CE17-0041","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"},{"id":"https://openalex.org/G6787472753","display_name":"How the fovea shapes our world: genetic and functional insights into foveal morphology","funder_award_id":"224643/Z/21/Z","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G8011156234","display_name":"How the fovea shapes our world: genetic and functional insights into foveal morphology","funder_award_id":"224643","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G9000286282","display_name":null,"funder_award_id":"200990/Z/16/Z","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"}],"funders":[{"id":"https://openalex.org/F4320306215","display_name":"Alcon Foundation","ror":"https://ror.org/028fhxy95"},{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"},{"id":"https://openalex.org/F4320319985","display_name":"Cancer Research UK","ror":"https://ror.org/054225q67"},{"id":"https://openalex.org/F4320319990","display_name":"National Institute for Health and Care Research","ror":"https://ror.org/0187kwz08"},{"id":"https://openalex.org/F4320319994","display_name":"Department of Health and Social Care","ror":"https://ror.org/03sbpja79"},{"id":"https://openalex.org/F4320320027","display_name":"Retina UK","ror":"https://ror.org/02nkqdh98"},{"id":"https://openalex.org/F4320320291","display_name":"University of Manchester","ror":"https://ror.org/027m9bs27"},{"id":"https://openalex.org/F4320320883","display_name":"Agence Nationale de la Recherche","ror":"https://ror.org/00rbzpz17"},{"id":"https://openalex.org/F4320327683","display_name":"Moorfields Eye Hospital NHS Foundation Trust","ror":"https://ror.org/03tb37539"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4284881663.pdf","grobid_xml":"https://content.openalex.org/works/W4284881663.grobid-xml"},"referenced_works_count":63,"referenced_works":["https://openalex.org/W1828340522","https://openalex.org/W1985934773","https://openalex.org/W1986265706","https://openalex.org/W2000642633","https://openalex.org/W2008047653","https://openalex.org/W2009144436","https://openalex.org/W2011095407","https://openalex.org/W2013416277","https://openalex.org/W2051978340","https://openalex.org/W2063602861","https://openalex.org/W2076841301","https://openalex.org/W2078129874","https://openalex.org/W2104549677","https://openalex.org/W2107202043","https://openalex.org/W2108996658","https://openalex.org/W2168397218","https://openalex.org/W2417483443","https://openalex.org/W2530956915","https://openalex.org/W2539390511","https://openalex.org/W2571852295","https://openalex.org/W2611574484","https://openalex.org/W2792313593","https://openalex.org/W2799324424","https://openalex.org/W2885204059","https://openalex.org/W2886191089","https://openalex.org/W2895486342","https://openalex.org/W2901303766","https://openalex.org/W2902721849","https://openalex.org/W2905452503","https://openalex.org/W2912491890","https://openalex.org/W2914208340","https://openalex.org/W2914762802","https://openalex.org/W2916137561","https://openalex.org/W2916229581","https://openalex.org/W2921313412","https://openalex.org/W2924489771","https://openalex.org/W2940312081","https://openalex.org/W2945738115","https://openalex.org/W2945852765","https://openalex.org/W2952988698","https://openalex.org/W2983919949","https://openalex.org/W2999574254","https://openalex.org/W3016532672","https://openalex.org/W3029661147","https://openalex.org/W3037601773","https://openalex.org/W3038072559","https://openalex.org/W3038742642","https://openalex.org/W3045910546","https://openalex.org/W3099179344","https://openalex.org/W3106811464","https://openalex.org/W3122115907","https://openalex.org/W3130601884","https://openalex.org/W3131055609","https://openalex.org/W3133859624","https://openalex.org/W3160704617","https://openalex.org/W3194143838","https://openalex.org/W3196426274","https://openalex.org/W4205197622","https://openalex.org/W4243928041","https://openalex.org/W4394539210","https://openalex.org/W6715434120","https://openalex.org/W6785346400","https://openalex.org/W7073934843"],"related_works":["https://openalex.org/W4317581936","https://openalex.org/W2938712441","https://openalex.org/W4404533812","https://openalex.org/W4404534579","https://openalex.org/W4403041684","https://openalex.org/W3009637792","https://openalex.org/W3197078900","https://openalex.org/W7116799035","https://openalex.org/W4205197622","https://openalex.org/W4404534642"],"abstract_inverted_index":{"Genetic":[0],"diseases":[1],"have":[2],"been":[3],"historically":[4],"segregated":[5],"into":[6,57],"rare":[7,64,76,165],"Mendelian":[8],"disorders":[9],"and":[10,23,44,72,77,87,147,166,173],"common":[11,167],"complex":[12],"conditions.":[13],"Large-scale":[14],"studies":[15],"using":[16],"genome":[17],"sequencing":[18],"are":[19,24],"eroding":[20],"this":[21,62],"distinction":[22],"gradually":[25],"unmasking":[26],"the":[27,38,58,68,83,98,161],"underlying":[28],"complexity":[29],"of":[30,48,61,70,100,132,164],"human":[31],"traits.":[32],"Here,":[33],"we":[34,158],"analysed":[35],"data":[36],"from":[37,45],"Genomics":[39],"England":[40],"100,000":[41],"Genomes":[42],"Project":[43],"a":[46,90,101,116,129],"cohort":[47],"1313":[49],"individuals":[50],"with":[51,128,143,148,181],"albinism":[52,135],"aiming":[53],"to":[54],"gain":[55],"insights":[56],"genetic":[59,177],"architecture":[60],"archetypal":[63],"disorder.":[65],"We":[66,79,110],"investigated":[67],"contribution":[69],"protein-coding":[71],"regulatory":[73],"variants":[74,168],"both":[75],"common.":[78],"focused":[80],"on":[81],"TYR,":[82],"gene":[84],"encoding":[85],"tyrosinase,":[86],"found":[88,112],"that":[89,113],"high-frequency":[91],"promoter":[92],"variant,":[93],"TYR":[94,106,124],"c.-301C>T":[95],"[rs4547091],":[96],"modulates":[97],"penetrance":[99],"prevalent,":[102],"albinism-associated":[103],"missense":[104],"change,":[105],"c.1205G>A":[107],"(p.Arg402Gln)":[108],"[rs1126809].":[109],"also":[111,141],"homozygosity":[114],"for":[115],"haplotype":[117],"formed":[118],"by":[119],"three":[120],"common,":[121],"functionally-relevant":[122],"variants,":[123],"c.[-301C;575C>A;1205G>A],":[125],"is":[126,140],"associated":[127,142],"high":[130],"probability":[131],"receiving":[133],"an":[134],"diagnosis":[136],"(OR>82).":[137],"This":[138],"genotype":[139],"reduced":[144],"visual":[145],"acuity":[146],"increased":[149],"central":[150],"retinal":[151],"thickness":[152],"in":[153,179],"UK":[154],"Biobank":[155],"participants.":[156],"Finally,":[157],"report":[159],"how":[160],"combined":[162],"analysis":[163],"can":[169,174],"increase":[170],"diagnostic":[171],"yield":[172],"help":[175],"inform":[176],"counselling":[178],"families":[180],"albinism.":[182]},"counts_by_year":[{"year":2026,"cited_by_count":9},{"year":2025,"cited_by_count":16},{"year":2024,"cited_by_count":14},{"year":2023,"cited_by_count":7},{"year":2022,"cited_by_count":13}],"updated_date":"2026-10-28T10:33:24.094632","created_date":"2022-07-09T00:00:00"}