{"id":"https://openalex.org/W4317212831","doi":"https://doi.org/10.1093/bioinformatics/btad004","title":"GWAS quality score for evaluating associated regions in GWAS analyses","display_name":"GWAS quality score for evaluating associated regions in GWAS analyses","publication_year":2023,"publication_date":"2023-01-01","ids":{"openalex":"https://openalex.org/W4317212831","doi":"https://doi.org/10.1093/bioinformatics/btad004","pmid":"https://pubmed.ncbi.nlm.nih.gov/36651666"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btad004","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btad004","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/39/1/btad004/49030530/btad004.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/article-pdf/39/1/btad004/49030530/btad004.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5090089858","display_name":"Swapnil Awasthi","orcid":null},"institutions":[{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Swapnil Awasthi","raw_affiliation_strings":["Department of Psychiatry and Psychotherapy, Charit\u00e9 - Universit\u00e4tsmedizin , Berlin 10117, Germany"],"affiliations":[{"raw_affiliation_string":"Department of Psychiatry and Psychotherapy, Charit\u00e9 - Universit\u00e4tsmedizin , Berlin 10117, Germany","institution_ids":["https://openalex.org/I7877124"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035223725","display_name":"Chia\u2010Yen Chen","orcid":"https://orcid.org/0000-0001-9548-5597"},"institutions":[{"id":"https://openalex.org/I1297540436","display_name":"Biogen (United States)","ror":"https://ror.org/02jqkb192","country_code":"US","type":"company","lineage":["https://openalex.org/I1297540436"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Chia-Yen Chen","raw_affiliation_strings":["Biogen , Cambridge, MA 02142, USA"],"affiliations":[{"raw_affiliation_string":"Biogen , Cambridge, MA 02142, USA","institution_ids":["https://openalex.org/I1297540436"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013177258","display_name":"Max Lam","orcid":"https://orcid.org/0000-0002-4256-7844"},"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":"Max Lam","raw_affiliation_strings":["Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard , Cambridge, MA 02142, USA"],"affiliations":[{"raw_affiliation_string":"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard , Cambridge, MA 02142, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026771827","display_name":"Hailiang Huang","orcid":"https://orcid.org/0000-0003-1461-5762"},"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/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Hailiang Huang","raw_affiliation_strings":["Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA 02114, USA","Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard , Cambridge, MA 02142, USA"],"affiliations":[{"raw_affiliation_string":"Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA 02114, USA","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard , Cambridge, MA 02142, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043145762","display_name":"Stephan Ripke","orcid":"https://orcid.org/0000-0003-3622-835X"},"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/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE","US"],"is_corresponding":true,"raw_author_name":"Stephan Ripke","raw_affiliation_strings":["Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA 02114, USA","Department of Psychiatry and Psychotherapy, Charit\u00e9 - Universit\u00e4tsmedizin , Berlin 10117, Germany","Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard , Cambridge, MA 02142, USA"],"affiliations":[{"raw_affiliation_string":"Analytic and Translational Genetics Unit, Massachusetts General Hospital , Boston, MA 02114, USA","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Department of Psychiatry and Psychotherapy, Charit\u00e9 - Universit\u00e4tsmedizin , Berlin 10117, Germany","institution_ids":["https://openalex.org/I7877124"]},{"raw_affiliation_string":"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard , Cambridge, MA 02142, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5112235983","display_name":"C. Anthony Altar","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C Anthony Altar","raw_affiliation_strings":["Splice Therapeutics , Germantown, MD 20876, USA"],"affiliations":[{"raw_affiliation_string":"Splice Therapeutics , Germantown, MD 20876, USA","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5043145762"],"corresponding_institution_ids":["https://openalex.org/I107606265","https://openalex.org/I4210087915","https://openalex.org/I7877124"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":{"value":3618,"currency":"USD","value_usd":3618},"fwci":0.6159,"has_fulltext":true,"cited_by_count":2,"citation_normalized_percentile":{"value":0.74383156,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":95},"biblio":{"volume":"39","issue":"1","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":0.9998999834060669,"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":0.9998999834060669,"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":0.9934999942779541,"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/T10594","display_name":"Genetic and phenotypic traits in livestock","score":0.9922000169754028,"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/genome-wide-association-study","display_name":"Genome-wide association study","score":0.7748141288757324},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.5240835547447205},{"id":"https://openalex.org/keywords/linkage-disequilibrium","display_name":"Linkage disequilibrium","score":0.49282553791999817},{"id":"https://openalex.org/keywords/statistics","display_name":"Statistics","score":0.47045838832855225},{"id":"https://openalex.org/keywords/outlier","display_name":"Outlier","score":0.4611840844154358},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.4380509853363037},{"id":"https://openalex.org/keywords/genetic-association","display_name":"Genetic association","score":0.4150921702384949},{"id":"https://openalex.org/keywords/snp","display_name":"SNP","score":0.412003755569458},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.3344416916370392},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.32517892122268677},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.32333463430404663},{"id":"https://openalex.org/keywords/mathematics","display_name":"Mathematics","score":0.13922864198684692},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.1231904923915863},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.11111387610435486}],"concepts":[{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.7748141288757324},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.5240835547447205},{"id":"https://openalex.org/C35605836","wikidata":"https://www.wikidata.org/wiki/Q2064311","display_name":"Linkage disequilibrium","level":5,"score":0.49282553791999817},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.47045838832855225},{"id":"https://openalex.org/C79337645","wikidata":"https://www.wikidata.org/wiki/Q779824","display_name":"Outlier","level":2,"score":0.4611840844154358},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.4380509853363037},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.4150921702384949},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.412003755569458},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3344416916370392},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.32517892122268677},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.32333463430404663},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.13922864198684692},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.1231904923915863},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.11111387610435486}],"mesh":[{"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":"D015810","descriptor_name":"Linkage Disequilibrium","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015810","descriptor_name":"Linkage Disequilibrium","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015810","descriptor_name":"Linkage Disequilibrium","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1093/bioinformatics/btad004","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btad004","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/39/1/btad004/49030530/btad004.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:36651666","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/36651666","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:9891241","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9891241","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC9891241/pdf/btad004.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","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":"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"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btad004","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btad004","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/39/1/btad004/49030530/btad004.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":[],"awards":[{"id":"https://openalex.org/G1250917675","display_name":null,"funder_award_id":"RI2846/1-1","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G1440672848","display_name":null,"funder_award_id":"various","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G6537435729","display_name":null,"funder_award_id":"Heisenberg","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G6743243744","display_name":null,"funder_award_id":"unknown","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G8330397625","display_name":null,"funder_award_id":"Funding","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"}],"funders":[{"id":"https://openalex.org/F4320314070","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142"},{"id":"https://openalex.org/F4320320879","display_name":"Deutsche Forschungsgemeinschaft","ror":"https://ror.org/018mejw64"},{"id":"https://openalex.org/F4320333423","display_name":"Stanley Center for Psychiatric Research, Broad Institute","ror":null}],"has_content":{"pdf":true,"grobid_xml":false},"content_urls":{"pdf":"https://content.openalex.org/works/W4317212831.pdf"},"referenced_works_count":19,"referenced_works":["https://openalex.org/W1979164118","https://openalex.org/W2005935256","https://openalex.org/W2044101547","https://openalex.org/W2081792830","https://openalex.org/W2102381029","https://openalex.org/W2120029762","https://openalex.org/W2121082411","https://openalex.org/W2153860431","https://openalex.org/W2336993262","https://openalex.org/W2346626662","https://openalex.org/W2609984900","https://openalex.org/W2935709748","https://openalex.org/W2952883732","https://openalex.org/W2967846176","https://openalex.org/W2983765585","https://openalex.org/W3182807823","https://openalex.org/W4225768109","https://openalex.org/W6675660012","https://openalex.org/W6761248593"],"related_works":["https://openalex.org/W2187968078","https://openalex.org/W1523912222","https://openalex.org/W2594299395","https://openalex.org/W1480804049","https://openalex.org/W2066467839","https://openalex.org/W2111842731","https://openalex.org/W2170506381","https://openalex.org/W2765794416","https://openalex.org/W2039666944","https://openalex.org/W1531630856"],"abstract_inverted_index":{"Supplementary":[0],"data":[1],"are":[2],"available":[3],"at":[4],"Bioinformatics":[5],"online.":[6]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1}],"updated_date":"2026-04-16T08:26:57.006410","created_date":"2025-10-10T00:00:00"}
