{"id":"https://openalex.org/W2921159822","doi":"https://doi.org/10.1002/cphg.83","title":"Methods for the Analysis and Interpretation for Rare Variants Associated with Complex Traits","display_name":"Methods for the Analysis and Interpretation for Rare Variants Associated with Complex Traits","publication_year":2019,"publication_date":"2019-03-08","ids":{"openalex":"https://openalex.org/W2921159822","doi":"https://doi.org/10.1002/cphg.83","mag":"2921159822","pmid":"https://pubmed.ncbi.nlm.nih.gov/30849219","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/6455968"},"language":"en","primary_location":{"id":"doi:10.1002/cphg.83","doi":"https://doi.org/10.1002/cphg.83","is_oa":false,"landing_page_url":"https://doi.org/10.1002/cphg.83","pdf_url":null,"source":{"id":"https://openalex.org/S2764932843","display_name":"Current Protocols in Human Genetics","issn_l":"1934-8258","issn":["1934-8258","1934-8266"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-70"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Current Protocols in Human Genetics","raw_type":"journal-article"},"volume":null,"type":"review","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6455968","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5043516480","display_name":"J. Dylan Weissenkampen","orcid":"https://orcid.org/0000-0003-1928-5184","observed_orcids":["https://orcid.org/0000-0003-1928-5184"]},"institutions":[{"id":"https://openalex.org/I130769515","display_name":"Pennsylvania State University","ror":"https://ror.org/04p491231","country_code":"US","type":"education","lineage":["https://openalex.org/I130769515"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"J. Dylan Weissenkampen","raw_affiliation_strings":["Department of Public Health Sciences, Penn State College of Medicine, Hershey, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Public Health Sciences, Penn State College of Medicine, Hershey, Pennsylvania","institution_ids":["https://openalex.org/I130769515"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102743674","display_name":"Yu Jiang","orcid":"https://orcid.org/0000-0003-2914-8300","observed_orcids":["https://orcid.org/0000-0003-2914-8300","https://orcid.org/0000-0001-7036-0384"]},"institutions":[{"id":"https://openalex.org/I130769515","display_name":"Pennsylvania State University","ror":"https://ror.org/04p491231","country_code":"US","type":"education","lineage":["https://openalex.org/I130769515"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yu Jiang","raw_affiliation_strings":["Department of Public Health Sciences, Penn State College of Medicine, Hershey, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Public Health Sciences, Penn State College of Medicine, Hershey, Pennsylvania","institution_ids":["https://openalex.org/I130769515"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Scott Eckert","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I130769515","display_name":"Pennsylvania State University","ror":"https://ror.org/04p491231","country_code":"US","type":"education","lineage":["https://openalex.org/I130769515"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Scott Eckert","raw_affiliation_strings":["Department of Public Health Sciences, Penn State College of Medicine, Hershey, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Public Health Sciences, Penn State College of Medicine, Hershey, Pennsylvania","institution_ids":["https://openalex.org/I130769515"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102829129","display_name":"Bibo Jiang","orcid":"https://orcid.org/0000-0002-7985-3780","observed_orcids":["https://orcid.org/0000-0002-7985-3780"]},"institutions":[{"id":"https://openalex.org/I130769515","display_name":"Pennsylvania State University","ror":"https://ror.org/04p491231","country_code":"US","type":"education","lineage":["https://openalex.org/I130769515"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Bibo Jiang","raw_affiliation_strings":["Department of Public Health Sciences, Penn State College of Medicine, Hershey, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Public Health Sciences, Penn State College of Medicine, Hershey, Pennsylvania","institution_ids":["https://openalex.org/I130769515"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028708641","display_name":"Bingshan Li","orcid":"https://orcid.org/0000-0003-2129-168X","observed_orcids":["https://orcid.org/0000-0003-2129-168X"]},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Bingshan Li","raw_affiliation_strings":["Department of Molecular Physiology and Biophysics, Vanderbilt Genetics Institute, Vanderbilt University, Nashville, Tennessee"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Physiology and Biophysics, Vanderbilt Genetics Institute, Vanderbilt University, Nashville, Tennessee","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5044571272","display_name":"Dajiang J. Liu","orcid":"https://orcid.org/0000-0001-6553-858X","observed_orcids":["https://orcid.org/0000-0001-6553-858X"]},"institutions":[{"id":"https://openalex.org/I130769515","display_name":"Pennsylvania State University","ror":"https://ror.org/04p491231","country_code":"US","type":"education","lineage":["https://openalex.org/I130769515"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Dajiang J. Liu","raw_affiliation_strings":["Department of Public Health Sciences, Penn State College of Medicine, Hershey, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Public Health Sciences, Penn State College of Medicine, Hershey, Pennsylvania","institution_ids":["https://openalex.org/I130769515"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5028708641","https://openalex.org/A5044571272"],"corresponding_institution_ids":["https://openalex.org/I130769515","https://openalex.org/I200719446"],"apc_list":{"value":4750,"currency":"USD","value_usd":4750},"apc_paid":null,"fwci":0.2323,"has_fulltext":false,"cited_by_count":17,"citation_normalized_percentile":{"value":0.24671636,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"101","issue":"1","first_page":"e83","last_page":"e83"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9887999892234802,"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":0.9887999892234802,"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":0.005499999970197678,"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/T11468","display_name":"Genetic Mapping and Diversity in Plants and Animals","score":0.0010000000474974513,"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/rare-variants","display_name":"rare variants","score":0.9639999866485596},{"id":"https://openalex.org/keywords/complex-traits","display_name":"complex traits","score":0.996999979019165},{"id":"https://openalex.org/keywords/whole-genome-sequencing","display_name":"whole genome sequencing","score":0.7770000100135803},{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.9729999899864197},{"id":"https://openalex.org/keywords/genotype-imputation","display_name":"genotype imputation","score":0.8769999742507935},{"id":"https://openalex.org/keywords/meta-analysis","display_name":"meta-analysis","score":0.9290000200271606},{"id":"https://openalex.org/keywords/fine-mapping","display_name":"fine mapping","score":0.9929999709129333},{"id":"https://openalex.org/keywords/phenome-wide-association-study","display_name":"phenome-wide association study","score":0.9200000166893005},{"id":"https://openalex.org/keywords/statistical-genetics","display_name":"statistical genetics","score":0.628000020980835}],"concepts":[{"id":"https://openalex.org/C116567970","wikidata":"https://www.wikidata.org/wiki/Q864217","display_name":"Biobank","level":2,"score":0.6837682723999023},{"id":"https://openalex.org/C7952369","wikidata":"https://www.wikidata.org/wiki/Q844116","display_name":"Phenome","level":4,"score":0.6505054235458374},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.6159626245498657},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.6075519323348999},{"id":"https://openalex.org/C58041806","wikidata":"https://www.wikidata.org/wiki/Q1660484","display_name":"Imputation (statistics)","level":3,"score":0.6019692420959473},{"id":"https://openalex.org/C31467283","wikidata":"https://www.wikidata.org/wiki/Q912147","display_name":"Genotyping","level":4,"score":0.5956684947013855},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.5854789018630981},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.5293558239936829},{"id":"https://openalex.org/C9287583","wikidata":"https://www.wikidata.org/wiki/Q5532883","display_name":"Genetic architecture","level":4,"score":0.5137141942977905},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.504885733127594},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.48575976490974426},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4539605379104614},{"id":"https://openalex.org/C24432333","wikidata":"https://www.wikidata.org/wiki/Q2068526","display_name":"Whole genome sequencing","level":4,"score":0.41149282455444336},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.39576414227485657},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.3685963451862335},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.30428025126457214},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.27510061860084534},{"id":"https://openalex.org/C81941488","wikidata":"https://www.wikidata.org/wiki/Q853421","display_name":"Quantitative trait locus","level":3,"score":0.2704106271266937},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.23154395818710327},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.18142744898796082},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.17573511600494385},{"id":"https://openalex.org/C9357733","wikidata":"https://www.wikidata.org/wiki/Q6878417","display_name":"Missing data","level":2,"score":0.16804742813110352},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.13491320610046387}],"mesh":[{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","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":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020412","descriptor_name":"Multifactorial Inheritance","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1002/cphg.83","doi":"https://doi.org/10.1002/cphg.83","is_oa":false,"landing_page_url":"https://doi.org/10.1002/cphg.83","pdf_url":null,"source":{"id":"https://openalex.org/S2764932843","display_name":"Current Protocols in Human Genetics","issn_l":"1934-8258","issn":["1934-8258","1934-8266"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-70"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Current Protocols in Human Genetics","raw_type":"journal-article"},{"id":"pmid:30849219","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30849219","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":"Current protocols in human genetics","raw_type":"Journal Article"},{"id":"pmh:oai:europepmc.org:6058713","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6455968","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,"listed_in":[],"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":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:6455968","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6455968","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":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Curr Protoc Hum Genet","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:europepmc.org:6058713","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6455968","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,"listed_in":[],"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":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Text"},"sustainable_development_goals":[],"study_designs":[],"awards":[{"id":"https://openalex.org/G1014282869","display_name":"Method to Enhance the Rare Variant Genetic Architecture Analysis in Meta-Analyses","funder_award_id":"R01HG008983","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G2260406673","display_name":"Tools for integrative genomics and disease association study for the X chromosome","funder_award_id":"R01GM126479","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G4628823939","display_name":"Analysis, Validation and Resource Creation for Genome Sequencing of Complex Diseases","funder_award_id":"U01HG009086","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G4700123825","display_name":"Penn State Biomedical Big Data to Knowledge (B2D2K) Training Program","funder_award_id":"T32LM012415","funder_id":"https://openalex.org/F4320337372","funder_display_name":"U.S. National Library of Medicine"},{"id":"https://openalex.org/G5475489981","display_name":"Methods to Unveil the Genetic Architecture for Nicotine Dependence via NGS data","funder_award_id":"R21DA040177","funder_id":"https://openalex.org/F4320337347","funder_display_name":"National Institute on Drug Abuse"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337347","display_name":"National Institute on Drug Abuse","ror":"https://ror.org/00fq5cm18"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"},{"id":"https://openalex.org/F4320337372","display_name":"U.S. National Library of Medicine","ror":"https://ror.org/0060t0j89"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":97,"referenced_works":["https://openalex.org/W998388588","https://openalex.org/W1514567872","https://openalex.org/W1516041857","https://openalex.org/W1550916401","https://openalex.org/W1847371588","https://openalex.org/W1865845132","https://openalex.org/W1965442268","https://openalex.org/W1966775465","https://openalex.org/W1966825973","https://openalex.org/W1978145421","https://openalex.org/W1980168725","https://openalex.org/W1990430353","https://openalex.org/W1990489020","https://openalex.org/W1994025360","https://openalex.org/W1998003466","https://openalex.org/W2006358633","https://openalex.org/W2006776184","https://openalex.org/W2007563785","https://openalex.org/W2018189081","https://openalex.org/W2019483502","https://openalex.org/W2020427316","https://openalex.org/W2021826885","https://openalex.org/W2023962370","https://openalex.org/W2029387902","https://openalex.org/W2033608662","https://openalex.org/W2043241855","https://openalex.org/W2056165766","https://openalex.org/W2058148991","https://openalex.org/W2059744149","https://openalex.org/W2063655230","https://openalex.org/W2067539811","https://openalex.org/W2070984858","https://openalex.org/W2079927753","https://openalex.org/W2082704080","https://openalex.org/W2088486634","https://openalex.org/W2090075367","https://openalex.org/W2093636770","https://openalex.org/W2098546186","https://openalex.org/W2101505979","https://openalex.org/W2104994386","https://openalex.org/W2105239414","https://openalex.org/W2113105800","https://openalex.org/W2117106243","https://openalex.org/W2120535512","https://openalex.org/W2122060560","https://openalex.org/W2122791877","https://openalex.org/W2129952088","https://openalex.org/W2133520037","https://openalex.org/W2135748113","https://openalex.org/W2140079333","https://openalex.org/W2143906078","https://openalex.org/W2146973661","https://openalex.org/W2148143831","https://openalex.org/W2148749248","https://openalex.org/W2149992227","https://openalex.org/W2152325859","https://openalex.org/W2160995259","https://openalex.org/W2161633633","https://openalex.org/W2161998322","https://openalex.org/W2163953557","https://openalex.org/W2169567789","https://openalex.org/W2170009139","https://openalex.org/W2225726427","https://openalex.org/W2280781077","https://openalex.org/W2297334215","https://openalex.org/W2341046893","https://openalex.org/W2443172870","https://openalex.org/W2471410861","https://openalex.org/W2510973425","https://openalex.org/W2511515754","https://openalex.org/W2521967673","https://openalex.org/W2583321412","https://openalex.org/W2590939831","https://openalex.org/W2595351638","https://openalex.org/W2620563544","https://openalex.org/W2724938313","https://openalex.org/W2734317952","https://openalex.org/W2737435306","https://openalex.org/W2765828622","https://openalex.org/W2767038995","https://openalex.org/W2771599286","https://openalex.org/W2780560743","https://openalex.org/W2783602503","https://openalex.org/W2785694006","https://openalex.org/W2798750837","https://openalex.org/W2806225217","https://openalex.org/W2884743956","https://openalex.org/W2884990155","https://openalex.org/W2893286041","https://openalex.org/W2894662039","https://openalex.org/W2905226148","https://openalex.org/W2909598358","https://openalex.org/W2947932026","https://openalex.org/W2950099124","https://openalex.org/W2950598813","https://openalex.org/W2952535009","https://openalex.org/W3105289061"],"related_works":["https://openalex.org/W1847371588","https://openalex.org/W1542104850","https://openalex.org/W2007733142","https://openalex.org/W2119943816","https://openalex.org/W63606828","https://openalex.org/W2094576610","https://openalex.org/W7096722113","https://openalex.org/W2018535772","https://openalex.org/W2899990821","https://openalex.org/W2805186416"],"abstract_inverted_index":{"With":[0],"the":[1,56,70,120],"advent":[2],"of":[3,55,59,74,122],"Next":[4],"Generation":[5],"Sequencing":[6],"(NGS)":[7],"technologies,":[8],"whole":[9,12],"genome":[10],"and":[11,28,97],"exome":[13],"DNA":[14],"sequencing":[15],"has":[16],"become":[17],"affordable":[18],"for":[19,69,80,113],"routine":[20],"genetic":[21,39,57],"studies.":[22],"Coupled":[23],"with":[24],"improved":[25],"genotyping":[26],"arrays":[27],"genotype":[29],"imputation":[30],"methodologies,":[31],"it":[32],"is":[33],"increasingly":[34],"feasible":[35],"to":[36,49,109],"obtain":[37],"rare":[38,64],"variant":[40],"information":[41],"in":[42,83,119],"large":[43],"datasets.":[44],"Such":[45],"datasets":[46],"allow":[47],"researchers":[48],"gain":[50],"a":[51],"more":[52],"complete":[53],"understanding":[54],"architecture":[58],"complex":[60],"traits":[61],"caused":[62],"by":[63,127],"variants.":[65],"State-of-the-art":[66],"statistical":[67,71,116],"methods":[68,91,106],"genetics":[72,117],"analysis":[73,82,118],"sequence-based":[75],"association,":[76],"including":[77],"efficient":[78],"algorithms":[79],"association":[81,99],"biobank-scale":[84],"datasets,":[85],"gene-association":[86],"tests,":[87],"meta-analysis,":[88],"fine":[89],"mapping":[90],"that":[92],"integrate":[93],"functional":[94],"genomic":[95],"dataset,":[96],"phenome-wide":[98],"studies":[100],"(PheWAS),":[101],"are":[102,107],"reviewed":[103],"here.":[104],"These":[105],"expected":[108],"be":[110],"highly":[111],"useful":[112],"next":[114],"generation":[115],"era":[121],"precision":[123],"medicine.":[124],"\u00a9":[125],"2019":[126],"John":[128],"Wiley":[129],"&":[130],"Sons,":[131],"Inc.":[132]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2019-03-22T00:00:00"}
