{"id":"https://openalex.org/W3014595730","doi":"https://doi.org/10.1093/bib/bbaa033","title":"GenoPheno: cataloging large-scale phenotypic and next-generation sequencing data within human datasets","display_name":"GenoPheno: cataloging large-scale phenotypic and next-generation sequencing data within human datasets","publication_year":2020,"publication_date":"2020-03-01","ids":{"openalex":"https://openalex.org/W3014595730","doi":"https://doi.org/10.1093/bib/bbaa033","mag":"3014595730","pmid":"https://pubmed.ncbi.nlm.nih.gov/32249310"},"language":"en","primary_location":{"id":"doi:10.1093/bib/bbaa033","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbaa033","pdf_url":"https://academic.oup.com/bib/article-pdf/22/1/55/35934635/bbaa033.pdf","source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://academic.oup.com/bib/article-pdf/22/1/55/35934635/bbaa033.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5065635969","display_name":"Alba Guti\u00e9rrez\u2010Sacrist\u00e1n","orcid":"https://orcid.org/0000-0002-1245-198X"},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alba Guti\u00e9rrez-Sacrist\u00e1n","raw_affiliation_strings":["Department of Biomedical Informatics, Harvard Medical School"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Harvard Medical School","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076226564","display_name":"Carlos De Niz","orcid":null},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Carlos De Niz","raw_affiliation_strings":["Department of Biomedical Informatics, Harvard Medical School"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Harvard Medical School","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040796163","display_name":"Cartik R. Kothari","orcid":null},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Cartik Kothari","raw_affiliation_strings":["Department of Biomedical Informatics, Harvard Medical School"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Harvard Medical School","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039030911","display_name":"Sek Won Kong","orcid":"https://orcid.org/0000-0003-4877-7567"},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sek Won Kong","raw_affiliation_strings":["Department of Biomedical Informatics, Harvard Medical School; Computational Health Informatics Program, Boston Children's Hospital","Department of Biomedical Informatics, Harvard Medical School"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Harvard Medical School; Computational Health Informatics Program, Boston Children's Hospital","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984"]},{"raw_affiliation_string":"Department of Biomedical Informatics, Harvard Medical School","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018662278","display_name":"Kenneth D. Mandl","orcid":"https://orcid.org/0000-0002-9781-0477"},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kenneth D Mandl","raw_affiliation_strings":["Department of Biomedical Informatics, Harvard Medical School; Computational Health Informatics Program, Boston Children's Hospital","Department of Biomedical Informatics, Harvard Medical School"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Harvard Medical School; Computational Health Informatics Program, Boston Children's Hospital","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984"]},{"raw_affiliation_string":"Department of Biomedical Informatics, Harvard Medical School","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5039453222","display_name":"Paul Avillach","orcid":"https://orcid.org/0000-0002-0235-7543"},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Paul Avillach","raw_affiliation_strings":["Department of Biomedical Informatics, Harvard Medical School; Computational Health Informatics Program, Boston Children's Hospital","Department of Biomedical Informatics, Harvard Medical School"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Harvard Medical School; Computational Health Informatics Program, Boston Children's Hospital","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984"]},{"raw_affiliation_string":"Department of Biomedical Informatics, Harvard Medical School","institution_ids":["https://openalex.org/I136199984"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5039453222"],"corresponding_institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984"],"apc_list":{"value":4011,"currency":"USD","value_usd":4011},"apc_paid":{"value":4011,"currency":"USD","value_usd":4011},"fwci":0.3534,"has_fulltext":true,"cited_by_count":7,"citation_normalized_percentile":{"value":0.47320071,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"22","issue":"1","first_page":"55","last_page":"65"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9995999932289124,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9995999932289124,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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":0.9965999722480774,"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/T11289","display_name":"Single-cell and spatial transcriptomics","score":0.9912999868392944,"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/precision-medicine","display_name":"Precision medicine","score":0.7109866142272949},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.657746434211731},{"id":"https://openalex.org/keywords/exome","display_name":"Exome","score":0.5941520929336548},{"id":"https://openalex.org/keywords/exome-sequencing","display_name":"Exome sequencing","score":0.5870988368988037},{"id":"https://openalex.org/keywords/data-science","display_name":"Data science","score":0.5028447508811951},{"id":"https://openalex.org/keywords/personalized-medicine","display_name":"Personalized medicine","score":0.48513326048851013},{"id":"https://openalex.org/keywords/scale","display_name":"Scale (ratio)","score":0.46048009395599365},{"id":"https://openalex.org/keywords/information-retrieval","display_name":"Information retrieval","score":0.3558315336704254},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.3316643238067627},{"id":"https://openalex.org/keywords/bioinformatics","display_name":"Bioinformatics","score":0.28012707829475403},{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.24297261238098145},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.21891111135482788},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.13737571239471436},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.08548703789710999}],"concepts":[{"id":"https://openalex.org/C163763905","wikidata":"https://www.wikidata.org/wiki/Q17075943","display_name":"Precision medicine","level":2,"score":0.7109866142272949},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.657746434211731},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.5941520929336548},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.5870988368988037},{"id":"https://openalex.org/C2522767166","wikidata":"https://www.wikidata.org/wiki/Q2374463","display_name":"Data science","level":1,"score":0.5028447508811951},{"id":"https://openalex.org/C32220436","wikidata":"https://www.wikidata.org/wiki/Q2072214","display_name":"Personalized medicine","level":2,"score":0.48513326048851013},{"id":"https://openalex.org/C2778755073","wikidata":"https://www.wikidata.org/wiki/Q10858537","display_name":"Scale (ratio)","level":2,"score":0.46048009395599365},{"id":"https://openalex.org/C23123220","wikidata":"https://www.wikidata.org/wiki/Q816826","display_name":"Information retrieval","level":1,"score":0.3558315336704254},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.3316643238067627},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.28012707829475403},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.24297261238098145},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.21891111135482788},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.13737571239471436},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.08548703789710999},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","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/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","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":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","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":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057285","descriptor_name":"Precision Medicine","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057285","descriptor_name":"Precision Medicine","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057285","descriptor_name":"Precision Medicine","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057285","descriptor_name":"Precision Medicine","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057285","descriptor_name":"Precision Medicine","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1093/bib/bbaa033","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbaa033","pdf_url":"https://academic.oup.com/bib/article-pdf/22/1/55/35934635/bbaa033.pdf","source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},{"id":"pmid:32249310","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32249310","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":"Briefings in bioinformatics","raw_type":null},{"id":"pmh:oai:europepmc.org:6746378","is_oa":true,"landing_page_url":"http://europepmc.org/pmc/articles/PMC7820848","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:7820848","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7820848","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,"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":"Brief Bioinform","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/bib/bbaa033","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbaa033","pdf_url":"https://academic.oup.com/bib/article-pdf/22/1/55/35934635/bbaa033.pdf","source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G1499194553","display_name":null,"funder_award_id":"U01TR002623","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G3500112053","display_name":null,"funder_award_id":"U01TR002623","funder_id":"https://openalex.org/F4320337472","funder_display_name":"National Center for Advancing Translational Sciences"},{"id":"https://openalex.org/G4585460454","display_name":null,"funder_award_id":"U01 TR002623","funder_id":"https://openalex.org/F4320337472","funder_display_name":"National Center for Advancing Translational Sciences"},{"id":"https://openalex.org/G7102145957","display_name":null,"funder_award_id":"U54HG007963","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G8940637788","display_name":null,"funder_award_id":"U54 HG007963","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"},{"id":"https://openalex.org/F4320337472","display_name":"National Center for Advancing Translational Sciences","ror":"https://ror.org/04pw6fb54"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3014595730.pdf","grobid_xml":"https://content.openalex.org/works/W3014595730.grobid-xml"},"referenced_works_count":76,"referenced_works":["https://openalex.org/W82351673","https://openalex.org/W182690601","https://openalex.org/W1533942137","https://openalex.org/W1567333450","https://openalex.org/W1752064231","https://openalex.org/W1792523251","https://openalex.org/W1922627767","https://openalex.org/W1952553890","https://openalex.org/W1973234126","https://openalex.org/W1977281020","https://openalex.org/W1978423748","https://openalex.org/W1980171391","https://openalex.org/W1984331840","https://openalex.org/W1991184008","https://openalex.org/W1996299724","https://openalex.org/W2012876036","https://openalex.org/W2015064892","https://openalex.org/W2025784069","https://openalex.org/W2029580357","https://openalex.org/W2030322782","https://openalex.org/W2035115649","https://openalex.org/W2057913811","https://openalex.org/W2060427373","https://openalex.org/W2061680337","https://openalex.org/W2076652359","https://openalex.org/W2076973731","https://openalex.org/W2079743286","https://openalex.org/W2082036307","https://openalex.org/W2082907106","https://openalex.org/W2087546077","https://openalex.org/W2088982973","https://openalex.org/W2096600298","https://openalex.org/W2099215679","https://openalex.org/W2102729801","https://openalex.org/W2113105800","https://openalex.org/W2113737470","https://openalex.org/W2132716107","https://openalex.org/W2138162199","https://openalex.org/W2142074194","https://openalex.org/W2146605832","https://openalex.org/W2152120766","https://openalex.org/W2156097706","https://openalex.org/W2161197885","https://openalex.org/W2166248418","https://openalex.org/W2168133698","https://openalex.org/W2169767637","https://openalex.org/W2302501749","https://openalex.org/W2329659234","https://openalex.org/W2405153319","https://openalex.org/W2560094353","https://openalex.org/W2584596997","https://openalex.org/W2588316293","https://openalex.org/W2731507867","https://openalex.org/W2770095154","https://openalex.org/W2773143703","https://openalex.org/W2773787581","https://openalex.org/W2787062441","https://openalex.org/W2801264239","https://openalex.org/W2802889540","https://openalex.org/W2804142383","https://openalex.org/W2895486342","https://openalex.org/W2906821085","https://openalex.org/W2911501529","https://openalex.org/W2922257230","https://openalex.org/W2952431387","https://openalex.org/W2973113902","https://openalex.org/W2995493202","https://openalex.org/W3004287310","https://openalex.org/W3126160703","https://openalex.org/W4205170775","https://openalex.org/W4242416368","https://openalex.org/W6603301512","https://openalex.org/W6607365711","https://openalex.org/W6669636941","https://openalex.org/W6746163975","https://openalex.org/W6760715338"],"related_works":["https://openalex.org/W3082935376","https://openalex.org/W2093932542","https://openalex.org/W2043256480","https://openalex.org/W2172231381","https://openalex.org/W1983406990","https://openalex.org/W4386960999","https://openalex.org/W2899657781","https://openalex.org/W4322484660","https://openalex.org/W2106924416","https://openalex.org/W2772505697"],"abstract_inverted_index":{"Precision":[0],"medicine":[1],"promises":[2],"to":[3,13,17,28,45,63,70,90,111],"revolutionize":[4],"treatment,":[5],"shifting":[6],"therapeutic":[7],"approaches":[8],"from":[9,121,134],"the":[10,18,34,53,102,135,188],"classical":[11],"one-size-fits-all":[12],"those":[14],"more":[15,122],"tailored":[16],"patient's":[19],"individual":[20],"genomic":[21,49],"profile,":[22],"lifestyle":[23],"and":[24,38,48,60,87,99,131,167,184,203],"environmental":[25],"exposures.":[26],"Yet,":[27],"advance":[29],"precision":[30],"medicine's":[31],"main":[32],"objective-ensuring":[33],"optimum":[35],"diagnosis,":[36],"treatment":[37],"prognosis":[39],"for":[40,96,215],"each":[41],"individual-investigators":[42],"need":[43],"access":[44,62,170],"large-scale":[46],"clinical":[47],"data":[50,120,133],"repositories.":[51],"Despite":[52],"vast":[54],"proliferation":[55],"of":[56,74,191],"these":[57,176],"datasets,":[58,181],"locating":[59],"obtaining":[61],"many":[64],"remains":[65],"a":[66,92,161,192,199],"challenge.":[67],"We":[68],"sought":[69],"provide":[71],"an":[72],"overview":[73],"available":[75,172,197],"patient-level":[76],"datasets":[77,214],"that":[78,116],"contain":[79,119,128],"both":[80,129],"genotypic":[81,130],"data,":[82],"obtained":[83],"by":[84,101],"next-generation":[85],"sequencing,":[86],"phenotypic":[88,132,154],"data-and":[89],"create":[91],"dynamic,":[93],"online":[94],"catalog":[95],"consultation,":[97],"contribution":[98],"revision":[100],"research":[103],"community.":[104],"Datasets":[105],"included":[106],"in":[107,173,187],"this":[108],"review":[109,208],"conform":[110],"six":[112],"specific":[113],"inclusion":[114,216],"parameters":[115],"are:":[117],"(i)":[118],"than":[123],"500":[124],"human":[125],"subjects;":[126,137],"(ii)":[127],"same":[136],"(iii)":[138],"include":[139,149],"whole":[140,144],"genome":[141],"sequencing":[142,146],"or":[143,163],"exome":[145],"data;":[147],"(iv)":[148],"at":[150],"least":[151],"100":[152],"recorded":[153],"variables":[155],"per":[156],"subject;":[157],"(v)":[158],"accessible":[159],"through":[160,198],"website":[162],"collaboration":[164],"with":[165],"investigators":[166],"(vi)":[168],"make":[169],"information":[171],"English.":[174],"Using":[175],"criteria,":[177],"we":[178],"identified":[179],"30":[180],"reviewed":[182],"them":[183],"provided":[185],"results":[186],"release":[189],"version":[190],"catalog,":[193],"which":[194],"is":[195],"publicly":[196],"dynamic":[200],"Web":[201],"application":[202],"on":[204],"GitHub.":[205],"Users":[206],"can":[207],"as":[209,211],"well":[210],"contribute":[212],"new":[213],"(Web:":[217],"https://avillachlab.shinyapps.io/genophenocatalog/;":[218],"GitHub:":[219],"https://github.com/hms-dbmi/GenoPheno-CatalogShiny).":[220]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2022,"cited_by_count":4},{"year":2020,"cited_by_count":1}],"updated_date":"2026-07-15T18:14:33.161393","created_date":"2025-10-10T00:00:00"}