{"id":"https://openalex.org/W4386268652","doi":"https://doi.org/10.1093/bioinformatics/btad535","title":"HAPNEST: efficient, large-scale generation and evaluation of synthetic datasets for genotypes and phenotypes","display_name":"HAPNEST: efficient, large-scale generation and evaluation of synthetic datasets for genotypes and phenotypes","publication_year":2023,"publication_date":"2023-08-30","ids":{"openalex":"https://openalex.org/W4386268652","doi":"https://doi.org/10.1093/bioinformatics/btad535","pmid":"https://pubmed.ncbi.nlm.nih.gov/37647640"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btad535","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btad535","pdf_url":"https://academic.oup.com/bioinformatics/advance-article-pdf/doi/10.1093/bioinformatics/btad535/51308782/btad535.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":true,"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":"gold","oa_url":"https://academic.oup.com/bioinformatics/advance-article-pdf/doi/10.1093/bioinformatics/btad535/51308782/btad535.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5032011166","display_name":"Sophie Wharrie","orcid":"https://orcid.org/0000-0003-2593-8081"},"institutions":[{"id":"https://openalex.org/I9927081","display_name":"Aalto University","ror":"https://ror.org/020hwjq30","country_code":"FI","type":"education","lineage":["https://openalex.org/I9927081"]}],"countries":["FI"],"is_corresponding":true,"raw_author_name":"Sophie Wharrie","raw_affiliation_strings":["Department of Computer Science, Aalto University , Espoo 02150, Finland"],"raw_orcid":"https://orcid.org/0000-0003-2593-8081","affiliations":[{"raw_affiliation_string":"Department of Computer Science, Aalto University , Espoo 02150, Finland","institution_ids":["https://openalex.org/I9927081"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021414632","display_name":"Zhiyu Yang","orcid":"https://orcid.org/0000-0002-4937-8747"},"institutions":[{"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/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"],"is_corresponding":false,"raw_author_name":"Zhiyu Yang","raw_affiliation_strings":["Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki , Helsinki 00014, Finland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki , Helsinki 00014, Finland","institution_ids":["https://openalex.org/I133731052","https://openalex.org/I4210133586"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077545936","display_name":"Vishnu Raj","orcid":"https://orcid.org/0000-0002-6939-8884"},"institutions":[{"id":"https://openalex.org/I9927081","display_name":"Aalto University","ror":"https://ror.org/020hwjq30","country_code":"FI","type":"education","lineage":["https://openalex.org/I9927081"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"Vishnu Raj","raw_affiliation_strings":["Department of Computer Science, Aalto University , Espoo 02150, Finland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Computer Science, Aalto University , Espoo 02150, Finland","institution_ids":["https://openalex.org/I9927081"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061221805","display_name":"Remo Monti","orcid":"https://orcid.org/0000-0002-6354-8319"},"institutions":[{"id":"https://openalex.org/I143288331","display_name":"Hasso Plattner Institute","ror":"https://ror.org/058rn5r42","country_code":"DE","type":"facility","lineage":["https://openalex.org/I143288331","https://openalex.org/I176453806"]},{"id":"https://openalex.org/I176453806","display_name":"University of Potsdam","ror":"https://ror.org/03bnmw459","country_code":"DE","type":"education","lineage":["https://openalex.org/I176453806"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Remo Monti","raw_affiliation_strings":["Hasso Plattner Institute, University of Potsdam, Digital Engineering Faculty , Potsdam 14469, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hasso Plattner Institute, University of Potsdam, Digital Engineering Faculty , Potsdam 14469, Germany","institution_ids":["https://openalex.org/I143288331","https://openalex.org/I176453806"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018651699","display_name":"Rahul Gupta","orcid":"https://orcid.org/0000-0001-8263-2455"},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rahul Gupta","raw_affiliation_strings":["Broad Institute of MIT and Harvard , Cambridge, Massachusetts 02142, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Broad Institute of MIT and Harvard , Cambridge, Massachusetts 02142, United States","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075598991","display_name":"Ying Wang","orcid":"https://orcid.org/0000-0001-7808-6279"},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ying Wang","raw_affiliation_strings":["Broad Institute of MIT and Harvard , Cambridge, Massachusetts 02142, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Broad Institute of MIT and Harvard , Cambridge, Massachusetts 02142, United States","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055040294","display_name":"Alicia R. Martin","orcid":"https://orcid.org/0000-0003-0241-3522"},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alicia Martin","raw_affiliation_strings":["Broad Institute of MIT and Harvard , Cambridge, Massachusetts 02142, United States"],"raw_orcid":"https://orcid.org/0000-0003-0241-3522","affiliations":[{"raw_affiliation_string":"Broad Institute of MIT and Harvard , Cambridge, Massachusetts 02142, United States","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030938002","display_name":"Luke J. O\u2019Connor","orcid":"https://orcid.org/0000-0003-2730-9668"},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Luke J O\u2019Connor","raw_affiliation_strings":["Broad Institute of MIT and Harvard , Cambridge, Massachusetts 02142, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Broad Institute of MIT and Harvard , Cambridge, Massachusetts 02142, United States","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018305257","display_name":"Samuel Kaski","orcid":"https://orcid.org/0000-0003-1925-9154"},"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/I9927081","display_name":"Aalto University","ror":"https://ror.org/020hwjq30","country_code":"FI","type":"education","lineage":["https://openalex.org/I9927081"]}],"countries":["FI","GB"],"is_corresponding":false,"raw_author_name":"Samuel Kaski","raw_affiliation_strings":["Department of Computer Science, Aalto University , Espoo 02150, Finland","Department of Computer Science, University of Manchester , Manchester M13 9PL, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Computer Science, Aalto University , Espoo 02150, Finland","institution_ids":["https://openalex.org/I9927081"]},{"raw_affiliation_string":"Department of Computer Science, University of Manchester , Manchester M13 9PL, United Kingdom","institution_ids":["https://openalex.org/I28407311"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089920272","display_name":"Pekka Marttinen","orcid":"https://orcid.org/0000-0001-7078-7927"},"institutions":[{"id":"https://openalex.org/I9927081","display_name":"Aalto University","ror":"https://ror.org/020hwjq30","country_code":"FI","type":"education","lineage":["https://openalex.org/I9927081"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"Pekka Marttinen","raw_affiliation_strings":["Department of Computer Science, Aalto University , Espoo 02150, Finland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Computer Science, Aalto University , Espoo 02150, Finland","institution_ids":["https://openalex.org/I9927081"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010391447","display_name":"Pier Francesco Palamara","orcid":"https://orcid.org/0000-0002-7999-1972"},"institutions":[{"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"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Pier Francesco Palamara","raw_affiliation_strings":["Department of Statistics, University of Oxford , Oxford OX1 2JD, United Kingdom"],"raw_orcid":"https://orcid.org/0000-0002-7999-1972","affiliations":[{"raw_affiliation_string":"Department of Statistics, University of Oxford , Oxford OX1 2JD, United Kingdom","institution_ids":["https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074204533","display_name":"Christoph Lippert","orcid":"https://orcid.org/0000-0001-6363-2556"},"institutions":[{"id":"https://openalex.org/I143288331","display_name":"Hasso Plattner Institute","ror":"https://ror.org/058rn5r42","country_code":"DE","type":"facility","lineage":["https://openalex.org/I143288331","https://openalex.org/I176453806"]},{"id":"https://openalex.org/I176453806","display_name":"University of Potsdam","ror":"https://ror.org/03bnmw459","country_code":"DE","type":"education","lineage":["https://openalex.org/I176453806"]},{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["DE","US"],"is_corresponding":false,"raw_author_name":"Christoph Lippert","raw_affiliation_strings":["Hasso Plattner Institute for Digital Health at Mount Sinai, Icahn School of Medicine at Mount Sinai , New York, New York 10065, United States","Hasso Plattner Institute, University of Potsdam, Digital Engineering Faculty , Potsdam 14469, Germany"],"raw_orcid":"https://orcid.org/0000-0001-6363-2556","affiliations":[{"raw_affiliation_string":"Hasso Plattner Institute for Digital Health at Mount Sinai, Icahn School of Medicine at Mount Sinai , New York, New York 10065, United States","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"Hasso Plattner Institute, University of Potsdam, Digital Engineering Faculty , Potsdam 14469, Germany","institution_ids":["https://openalex.org/I143288331","https://openalex.org/I176453806"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5073500794","display_name":"Andrea Ganna","orcid":"https://orcid.org/0000-0002-8147-240X"},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"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/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","US"],"is_corresponding":false,"raw_author_name":"Andrea Ganna","raw_affiliation_strings":["Broad Institute of MIT and Harvard , Cambridge, Massachusetts 02142, United States","Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki , Helsinki 00014, Finland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Broad Institute of MIT and Harvard , Cambridge, Massachusetts 02142, United States","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki , Helsinki 00014, Finland","institution_ids":["https://openalex.org/I133731052","https://openalex.org/I4210133586"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":9,"corresponding_author_ids":["https://openalex.org/A5032011166"],"corresponding_institution_ids":["https://openalex.org/I9927081"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":{"value":3689,"currency":"EUR","value_usd":3978},"fwci":6.0258,"has_fulltext":true,"cited_by_count":28,"citation_normalized_percentile":{"value":0.97081335,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":97,"max":100},"biblio":{"volume":"39","issue":"9","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.982200026512146,"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":0.982200026512146,"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":0.006300000008195639,"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/T10269","display_name":"Epigenetics and DNA Methylation","score":0.0012000000569969416,"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/biobank","display_name":"Biobank","score":0.667935848236084},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6383305788040161},{"id":"https://openalex.org/keywords/synthetic-data","display_name":"Synthetic data","score":0.5853157639503479},{"id":"https://openalex.org/keywords/benchmark","display_name":"Benchmark (surveying)","score":0.58329838514328},{"id":"https://openalex.org/keywords/scalability","display_name":"Scalability","score":0.542686939239502},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.5295190215110779},{"id":"https://openalex.org/keywords/heritability","display_name":"Heritability","score":0.5219473242759705},{"id":"https://openalex.org/keywords/source-code","display_name":"Source code","score":0.49212759733200073},{"id":"https://openalex.org/keywords/scale","display_name":"Scale (ratio)","score":0.49097731709480286},{"id":"https://openalex.org/keywords/usability","display_name":"Usability","score":0.4508124589920044},{"id":"https://openalex.org/keywords/software","display_name":"Software","score":0.42846155166625977},{"id":"https://openalex.org/keywords/benchmarking","display_name":"Benchmarking","score":0.41374316811561584},{"id":"https://openalex.org/keywords/machine-learning","display_name":"Machine learning","score":0.3777359127998352},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.3123946189880371},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.2158781886100769},{"id":"https://openalex.org/keywords/bioinformatics","display_name":"Bioinformatics","score":0.20964786410331726},{"id":"https://openalex.org/keywords/database","display_name":"Database","score":0.1482999622821808},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.13834670186042786}],"concepts":[{"id":"https://openalex.org/C116567970","wikidata":"https://www.wikidata.org/wiki/Q864217","display_name":"Biobank","level":2,"score":0.667935848236084},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6383305788040161},{"id":"https://openalex.org/C160920958","wikidata":"https://www.wikidata.org/wiki/Q7662746","display_name":"Synthetic data","level":2,"score":0.5853157639503479},{"id":"https://openalex.org/C185798385","wikidata":"https://www.wikidata.org/wiki/Q1161707","display_name":"Benchmark (surveying)","level":2,"score":0.58329838514328},{"id":"https://openalex.org/C48044578","wikidata":"https://www.wikidata.org/wiki/Q727490","display_name":"Scalability","level":2,"score":0.542686939239502},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.5295190215110779},{"id":"https://openalex.org/C161890455","wikidata":"https://www.wikidata.org/wiki/Q1503548","display_name":"Heritability","level":2,"score":0.5219473242759705},{"id":"https://openalex.org/C43126263","wikidata":"https://www.wikidata.org/wiki/Q128751","display_name":"Source code","level":2,"score":0.49212759733200073},{"id":"https://openalex.org/C2778755073","wikidata":"https://www.wikidata.org/wiki/Q10858537","display_name":"Scale (ratio)","level":2,"score":0.49097731709480286},{"id":"https://openalex.org/C170130773","wikidata":"https://www.wikidata.org/wiki/Q216378","display_name":"Usability","level":2,"score":0.4508124589920044},{"id":"https://openalex.org/C2777904410","wikidata":"https://www.wikidata.org/wiki/Q7397","display_name":"Software","level":2,"score":0.42846155166625977},{"id":"https://openalex.org/C86251818","wikidata":"https://www.wikidata.org/wiki/Q816754","display_name":"Benchmarking","level":2,"score":0.41374316811561584},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.3777359127998352},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.3123946189880371},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2158781886100769},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.20964786410331726},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.1482999622821808},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.13834670186042786},{"id":"https://openalex.org/C162853370","wikidata":"https://www.wikidata.org/wiki/Q39809","display_name":"Marketing","level":1,"score":0.0},{"id":"https://openalex.org/C144133560","wikidata":"https://www.wikidata.org/wiki/Q4830453","display_name":"Business","level":0,"score":0.0},{"id":"https://openalex.org/C13280743","wikidata":"https://www.wikidata.org/wiki/Q131089","display_name":"Geodesy","level":1,"score":0.0},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0},{"id":"https://openalex.org/C205649164","wikidata":"https://www.wikidata.org/wiki/Q1071","display_name":"Geography","level":0,"score":0.0},{"id":"https://openalex.org/C62520636","wikidata":"https://www.wikidata.org/wiki/Q944","display_name":"Quantum mechanics","level":1,"score":0.0},{"id":"https://openalex.org/C111919701","wikidata":"https://www.wikidata.org/wiki/Q9135","display_name":"Operating system","level":1,"score":0.0},{"id":"https://openalex.org/C107457646","wikidata":"https://www.wikidata.org/wiki/Q207434","display_name":"Human\u2013computer interaction","level":1,"score":0.0},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000068598","descriptor_name":"Data Accuracy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000068598","descriptor_name":"Data Accuracy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000068598","descriptor_name":"Data Accuracy","qualifier_ui":null,"qualifier_name":null,"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":"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":"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":"D019985","descriptor_name":"Benchmarking","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019985","descriptor_name":"Benchmarking","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019985","descriptor_name":"Benchmarking","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020412","descriptor_name":"Multifactorial Inheritance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020412","descriptor_name":"Multifactorial Inheritance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020412","descriptor_name":"Multifactorial Inheritance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1093/bioinformatics/btad535","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btad535","pdf_url":"https://academic.oup.com/bioinformatics/advance-article-pdf/doi/10.1093/bioinformatics/btad535/51308782/btad535.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":true,"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:37647640","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/37647640","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:pubmedcentral.nih.gov:10493177","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/10493177","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10493177/pdf/btad535.pdf","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,"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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics","raw_type":"Text"},{"id":"pmh:oai:aaltodoc.aalto.fi:123456789/123816","is_oa":true,"landing_page_url":"https://research.aalto.fi/en/publications/833d3610-e1c2-4cb7-9f08-2d696225c7ae","pdf_url":null,"source":{"id":"https://openalex.org/S4306401662","display_name":"Aaltodoc (Aalto University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I9927081","host_organization_name":"Aalto University","host_organization_lineage":["https://openalex.org/I9927081"],"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":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pure.atira.dk:openaire_cris_publications/41e48062-7374-43ae-ab87-cc4be1daed1c","is_oa":true,"landing_page_url":"https://research.manchester.ac.uk/en/publications/41e48062-7374-43ae-ab87-cc4be1daed1c","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,"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Wharrie, S, Yang, Z, Raj, V, Monti, R, Gupta, R, Wang, Y Y, Martin, A R, O'Connor, L J, Kaski, S, Marttinen, P, Palamara, P F, Lippert, C & Ganna, A 2023, 'HAPNEST : efficient, large-scale generation and evaluation of synthetic datasets for genotypes and phenotypes', Bioinformatics, vol. 39, no. 9, btad535. https://doi.org/10.1093/bioinformatics/btad535","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btad535","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btad535","pdf_url":"https://academic.oup.com/bioinformatics/advance-article-pdf/doi/10.1093/bioinformatics/btad535/51308782/btad535.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":true,"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":[{"display_name":"Industry, innovation and infrastructure","score":0.44999998807907104,"id":"https://metadata.un.org/sdg/9"}],"awards":[{"id":"https://openalex.org/G3228503322","display_name":"International consortium for integrative genomics prediction","funder_award_id":"101016775","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G434337789","display_name":null,"funder_award_id":"HORIZON2020","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"}],"funders":[{"id":"https://openalex.org/F4320320300","display_name":"European Commission","ror":"https://ror.org/00k4n6c32"},{"id":"https://openalex.org/F4320322725","display_name":"China Scholarship Council","ror":"https://ror.org/04atp4p48"}],"has_content":{"pdf":true,"grobid_xml":false},"content_urls":{"pdf":"https://content.openalex.org/works/W4386268652.pdf"},"referenced_works_count":27,"referenced_works":["https://openalex.org/W1844405070","https://openalex.org/W1962960380","https://openalex.org/W2048186185","https://openalex.org/W2102381029","https://openalex.org/W2107916366","https://openalex.org/W2113697014","https://openalex.org/W2134599124","https://openalex.org/W2147911093","https://openalex.org/W2155496693","https://openalex.org/W2161633633","https://openalex.org/W2914488418","https://openalex.org/W2914532656","https://openalex.org/W2915376351","https://openalex.org/W2951641704","https://openalex.org/W2951646637","https://openalex.org/W2952882474","https://openalex.org/W2999916586","https://openalex.org/W3004849337","https://openalex.org/W3010089023","https://openalex.org/W3012452819","https://openalex.org/W3029661147","https://openalex.org/W3045441625","https://openalex.org/W3093401713","https://openalex.org/W3159881528","https://openalex.org/W3201098936","https://openalex.org/W4286255093","https://openalex.org/W4313492671"],"related_works":["https://openalex.org/W4285087457","https://openalex.org/W4238897586","https://openalex.org/W2105971613","https://openalex.org/W3113746618","https://openalex.org/W435179959","https://openalex.org/W2619091065","https://openalex.org/W4226051228","https://openalex.org/W4226156868","https://openalex.org/W2059640416","https://openalex.org/W4244742767"],"abstract_inverted_index":{"MOTIVATION:":[0],"Existing":[1],"methods":[2,37,130],"for":[3,16,23,33,38,51,158,170],"simulating":[4],"synthetic":[5,25,31,92,148,172],"genotype":[6],"and":[7,28,35,57,70,103,111,140,155,179,183],"phenotype":[8],"datasets":[9,81,173],"have":[10],"limited":[11],"scalability,":[12],"constraining":[13],"their":[14],"usability":[15],"large-scale":[17],"analyses.":[18],"Moreover,":[19],"a":[20,29,48,71],"systematic":[21],"approach":[22,50],"evaluating":[24,36],"data":[26,93],"quality":[27],"benchmark":[30],"dataset":[32,149],"developing":[34],"polygenic":[39,133],"risk":[40,134],"scores":[41],"are":[42],"lacking.":[43],"RESULTS:":[44],"We":[45,117],"present":[46],"HAPNEST,":[47],"novel":[49],"efficiently":[52],"generating":[53,80,171],"diverse":[54],"individual-level":[55],"genotypic":[56],"phenotypic":[58],"data.":[59,89],"In":[60],"comparison":[61,127],"to":[62,97,131],"alternative":[63],"methods,":[64],"HAPNEST":[65,120,168],"shows":[66],"faster":[67],"computational":[68],"speed":[69],"lower":[72],"degree":[73],"of":[74,87,109,128,150],"relatedness":[75],"with":[76,106],"reference":[77],"panels,":[78],"while":[79],"that":[82],"preserve":[83],"key":[84],"statistical":[85],"properties":[86,94],"real":[88],"These":[90],"desirable":[91],"enabled":[95],"us":[96],"generate":[98,132],"6.8":[99,159],"million":[100,115,160],"common":[101,161],"variants":[102,162],"nine":[104,156],"phenotypes":[105],"varying":[107],"degrees":[108],"heritability":[110],"polygenicity":[112],"across":[113,136],"1":[114,151],"individuals.":[116],"demonstrate":[118],"how":[119],"can":[121],"facilitate":[122],"biobank-scale":[123],"analyses":[124],"through":[125],"the":[126],"seven":[129],"scoring":[135],"multiple":[137],"ancestry":[138],"groups":[139],"different":[141],"genetic":[142],"architectures.":[143],"AVAILABILITY":[144],"AND":[145],"IMPLEMENTATION:":[146],"A":[147],"008":[152],"000":[153],"individuals":[154],"traits":[157],"is":[163,174],"available":[164,175],"at":[165,186],"https://www.ebi.ac.uk/biostudies/studies/S-BSST936.":[166],"The":[167],"software":[169],"as":[176],"Docker/Singularity":[177],"containers":[178],"open":[180],"source":[181],"Julia":[182],"C":[184],"code":[185],"https://github.com/intervene-EU-H2020/synthetic_data.":[187]},"counts_by_year":[{"year":2026,"cited_by_count":9},{"year":2025,"cited_by_count":7},{"year":2024,"cited_by_count":8},{"year":2023,"cited_by_count":4}],"updated_date":"2026-08-08T01:25:22.217667","created_date":"2025-10-10T00:00:00"}
