{"id":"https://openalex.org/W2080310417","doi":"https://doi.org/10.1371/journal.pcbi.1002886","title":"Interpretation of Genomic Variants Using a Unified Biological Network Approach","display_name":"Interpretation of Genomic Variants Using a Unified Biological Network Approach","publication_year":2013,"publication_date":"2013-03-07","ids":{"openalex":"https://openalex.org/W2080310417","doi":"https://doi.org/10.1371/journal.pcbi.1002886","mag":"2080310417","pmid":"https://pubmed.ncbi.nlm.nih.gov/23505346"},"language":"en","primary_location":{"id":"doi:10.1371/journal.pcbi.1002886","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1002886","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1002886&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS Computational Biology","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1002886&type=printable","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5045772189","display_name":"Ekta Khurana","orcid":"https://orcid.org/0000-0002-4351-7566"},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ekta Khurana","raw_affiliation_strings":["Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, United States of America","Molecular Biophysics and Biochemistry Department, Yale University, New Haven, Connecticut, United States of America"],"affiliations":[{"raw_affiliation_string":"Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, United States of America","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Molecular Biophysics and Biochemistry Department, Yale University, New Haven, Connecticut, United States of America","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101839206","display_name":"Yao Fu","orcid":"https://orcid.org/0000-0003-2348-4872"},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yao Fu","raw_affiliation_strings":["Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, United States of America"],"affiliations":[{"raw_affiliation_string":"Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, United States of America","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053809809","display_name":"Jieming Chen","orcid":"https://orcid.org/0000-0003-3767-9486"},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jieming Chen","raw_affiliation_strings":["Integrated Graduate Program in Physical and Engineering Biology, Yale University, New Haven, Connecticut, United States of America","Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, United States of America"],"affiliations":[{"raw_affiliation_string":"Integrated Graduate Program in Physical and Engineering Biology, Yale University, New Haven, Connecticut, United States of America","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, United States of America","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5042321575","display_name":"Mark Gerstein","orcid":"https://orcid.org/0000-0002-9746-3719"},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Mark Gerstein","raw_affiliation_strings":["Department of Computer Science, Yale University, New Haven, Connecticut, United States of America","Molecular Biophysics and Biochemistry Department, Yale University, New Haven, Connecticut, United States of America","Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, United States of America"],"affiliations":[{"raw_affiliation_string":"Department of Computer Science, Yale University, New Haven, Connecticut, United States of America","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Molecular Biophysics and Biochemistry Department, Yale University, New Haven, Connecticut, United States of America","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, United States of America","institution_ids":["https://openalex.org/I32971472"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5042321575"],"corresponding_institution_ids":["https://openalex.org/I32971472"],"apc_list":{"value":2655,"currency":"USD","value_usd":2655},"apc_paid":{"value":2655,"currency":"USD","value_usd":2655},"fwci":9.7325,"has_fulltext":true,"cited_by_count":196,"citation_normalized_percentile":{"value":0.98762225,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":98,"max":100},"biblio":{"volume":"9","issue":"3","first_page":"e1002886","last_page":"e1002886"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.9994999766349792,"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"}},"topics":[{"id":"https://openalex.org/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.9994999766349792,"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"}},{"id":"https://openalex.org/T10932","display_name":"Microbial Metabolic Engineering and Bioproduction","score":0.9918000102043152,"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"}},{"id":"https://openalex.org/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.9847999811172485,"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/biology","display_name":"Biology","score":0.7320607304573059},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.6392250657081604},{"id":"https://openalex.org/keywords/centrality","display_name":"Centrality","score":0.63169926404953},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.6201045513153076},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.6038980484008789},{"id":"https://openalex.org/keywords/loss-function","display_name":"Loss function","score":0.5751259326934814},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.468603253364563},{"id":"https://openalex.org/keywords/systems-biology","display_name":"Systems biology","score":0.4361925721168518},{"id":"https://openalex.org/keywords/genomics","display_name":"Genomics","score":0.4148469865322113},{"id":"https://openalex.org/keywords/evolutionary-biology","display_name":"Evolutionary biology","score":0.3352133631706238},{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.32771581411361694}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7320607304573059},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.6392250657081604},{"id":"https://openalex.org/C53811970","wikidata":"https://www.wikidata.org/wiki/Q5062194","display_name":"Centrality","level":2,"score":0.63169926404953},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6201045513153076},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.6038980484008789},{"id":"https://openalex.org/C105951970","wikidata":"https://www.wikidata.org/wiki/Q1036748","display_name":"Loss function","level":4,"score":0.5751259326934814},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.468603253364563},{"id":"https://openalex.org/C152662350","wikidata":"https://www.wikidata.org/wiki/Q815297","display_name":"Systems biology","level":2,"score":0.4361925721168518},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.4148469865322113},{"id":"https://openalex.org/C78458016","wikidata":"https://www.wikidata.org/wiki/Q840400","display_name":"Evolutionary biology","level":1,"score":0.3352133631706238},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.32771581411361694},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.0},{"id":"https://openalex.org/C114614502","wikidata":"https://www.wikidata.org/wiki/Q76592","display_name":"Combinatorics","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002679","descriptor_name":"Pan troglodytes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002679","descriptor_name":"Pan troglodytes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002679","descriptor_name":"Pan troglodytes","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":"D008957","descriptor_name":"Models, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008957","descriptor_name":"Models, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008957","descriptor_name":"Models, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010766","descriptor_name":"Phosphorylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010766","descriptor_name":"Phosphorylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010766","descriptor_name":"Phosphorylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015398","descriptor_name":"Signal Transduction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015398","descriptor_name":"Signal Transduction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015398","descriptor_name":"Signal Transduction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016015","descriptor_name":"Logistic Models","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016015","descriptor_name":"Logistic Models","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016015","descriptor_name":"Logistic Models","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D018709","descriptor_name":"Statistics, Nonparametric","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018709","descriptor_name":"Statistics, Nonparametric","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018709","descriptor_name":"Statistics, Nonparametric","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":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D053263","descriptor_name":"Gene Regulatory Networks","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D053263","descriptor_name":"Gene Regulatory Networks","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D053263","descriptor_name":"Gene Regulatory Networks","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D053858","descriptor_name":"Metabolic Networks and Pathways","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053858","descriptor_name":"Metabolic Networks and Pathways","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053858","descriptor_name":"Metabolic Networks and Pathways","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D060066","descriptor_name":"Protein Interaction Maps","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D060066","descriptor_name":"Protein Interaction Maps","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D060066","descriptor_name":"Protein Interaction Maps","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":6,"locations":[{"id":"doi:10.1371/journal.pcbi.1002886","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1002886","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1002886&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS Computational Biology","raw_type":"journal-article"},{"id":"pmid:23505346","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23505346","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":"PLoS computational biology","raw_type":null},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.352.5299","is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.352.5299","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://archive.gersteinlab.org/papers/e-print/netsnp/preprint.pdf","raw_type":"text"},{"id":"pmh:oai:doaj.org/article:3c555f6fbc924e96b30a107dbe555032","is_oa":true,"landing_page_url":"https://doaj.org/article/3c555f6fbc924e96b30a107dbe555032","pdf_url":null,"source":{"id":"https://openalex.org/S112646816","display_name":"SHILAP Revista de lepidopterolog\u00eda","issn_l":"0300-5267","issn":["0300-5267","2340-4078"],"is_oa":true,"is_in_doaj":true,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS Computational Biology, Vol 9, Iss 3, p e1002886 (2013)","raw_type":"article"},{"id":"pmh:oai:europepmc.org:2596533","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3591262","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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:figshare.com:article/647160","is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Interpretation_of_Genomic_Variants_Using_a_Unified_Biological_Network_Approach__/647160","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Dataset"}],"best_oa_location":{"id":"doi:10.1371/journal.pcbi.1002886","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1002886","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1002886&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS Computational Biology","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.7200000286102295,"id":"https://metadata.un.org/sdg/15","display_name":"Life in Land"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2080310417.pdf","grobid_xml":"https://content.openalex.org/works/W2080310417.grobid-xml"},"referenced_works_count":35,"referenced_works":["https://openalex.org/W1980740976","https://openalex.org/W1980800453","https://openalex.org/W2001175271","https://openalex.org/W2001554877","https://openalex.org/W2001725958","https://openalex.org/W2036709589","https://openalex.org/W2059145105","https://openalex.org/W2067424615","https://openalex.org/W2083045667","https://openalex.org/W2101330776","https://openalex.org/W2103105682","https://openalex.org/W2113649367","https://openalex.org/W2116609981","https://openalex.org/W2116995944","https://openalex.org/W2117024463","https://openalex.org/W2125351990","https://openalex.org/W2127981150","https://openalex.org/W2130790725","https://openalex.org/W2132450464","https://openalex.org/W2142642738","https://openalex.org/W2143602768","https://openalex.org/W2147714160","https://openalex.org/W2158116492","https://openalex.org/W2159482845","https://openalex.org/W2162128823","https://openalex.org/W2163485494","https://openalex.org/W2165419403","https://openalex.org/W2166043581","https://openalex.org/W2169336096","https://openalex.org/W2170470690","https://openalex.org/W2171437346","https://openalex.org/W2171599819","https://openalex.org/W2171777347","https://openalex.org/W2885727518","https://openalex.org/W4210347168"],"related_works":["https://openalex.org/W4229078645","https://openalex.org/W1977345676","https://openalex.org/W4282032776","https://openalex.org/W2047552823","https://openalex.org/W4321606905","https://openalex.org/W3130445735","https://openalex.org/W2105110616","https://openalex.org/W2062993691","https://openalex.org/W2134092731","https://openalex.org/W2115386182"],"abstract_inverted_index":{"The":[0],"decreasing":[1],"cost":[2],"of":[3,11,24,27,35,59,163,183,186,222,235],"sequencing":[4],"is":[5,45,65,139,178],"leading":[6],"to":[7,55,77,95,111,127,159,200,225],"a":[8,74,104,202],"growing":[9],"repertoire":[10],"personal":[12],"genomes.":[13],"However,":[14,137],"we":[15,72],"are":[16,40,156],"lagging":[17],"behind":[18],"in":[19,37,50,87,99,131,173,181,238,242],"understanding":[20],"the":[21,25,80,93,109,141,147,169,174,184,193,223,226],"functional":[22],"consequences":[23],"millions":[26],"variants":[28,36,49,236],"obtained":[29],"from":[30],"sequencing.":[31],"Global":[32],"system-wide":[33],"effects":[34],"coding":[38],"genes":[39,52,125,150,210],"particularly":[41],"poorly":[42],"understood.":[43],"It":[44],"known":[46],"that":[47,119,168],"while":[48],"some":[51],"can":[53],"lead":[54],"diseases,":[56],"complete":[57],"disruption":[58],"other":[60],"genes,":[61],"called":[62],"'loss-of-function":[63],"tolerant',":[64],"possible":[66],"with":[67,108,171,211],"no":[68],"obvious":[69],"effect.":[70],"Here,":[71],"build":[73,201],"systems-based":[75],"classifier":[76,203,224],"quantitatively":[78],"estimate":[79],"global":[81],"perturbation":[82],"caused":[83],"by":[84,246],"deleterious":[85],"mutations":[86,113],"each":[88],"gene.":[89],"We":[90,117],"first":[91],"survey":[92],"degree":[94],"which":[96],"gene":[97],"centrality":[98,172],"various":[100],"individual":[101,219],"networks":[102],"and":[103,114,122,134,155,195,207,241],"unified":[105],"'Multinet'":[106],"correlates":[107],"tolerance":[110],"loss-of-function":[112,160,208],"evolutionary":[115,196],"conservation.":[116],"find":[118],"functionally":[120,205],"significant":[121],"highly":[123,148],"conserved":[124],"tend":[126],"be":[128],"more":[129,152,157],"central":[130,149],"physical":[132],"protein-protein":[133,175],"regulatory":[135],"networks.":[136],"this":[138],"not":[140],"case":[142],"for":[143,233],"metabolic":[144],"pathways,":[145],"where":[146],"have":[151],"duplicated":[153],"copies":[154],"tolerant":[158,209],"mutations.":[161],"Integration":[162],"three-dimensional":[164],"protein":[165],"structures":[166],"reveals":[167],"correlation":[170],"interaction":[176,187],"network":[177,194],"also":[179],"seen":[180],"terms":[182],"number":[185],"interfaces":[188],"used.":[189],"Finally,":[190],"combining":[191],"all":[192],"properties":[197],"allows":[198],"us":[199],"distinguishing":[204],"essential":[206],"higher":[212],"accuracy":[213],"(AUC":[214],"=":[215],"0.91)":[216],"than":[217],"any":[218],"property.":[220],"Application":[221],"whole":[227],"genome":[228],"shows":[229],"its":[230],"strong":[231],"potential":[232],"interpretation":[234],"involved":[237],"mendelian":[239],"diseases":[240],"complex":[243],"disorders":[244],"probed":[245],"genome-wide":[247],"association":[248],"studies.":[249]},"counts_by_year":[{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":12},{"year":2023,"cited_by_count":13},{"year":2022,"cited_by_count":7},{"year":2021,"cited_by_count":17},{"year":2020,"cited_by_count":23},{"year":2019,"cited_by_count":13},{"year":2018,"cited_by_count":16},{"year":2017,"cited_by_count":24},{"year":2016,"cited_by_count":19},{"year":2015,"cited_by_count":21},{"year":2014,"cited_by_count":19},{"year":2013,"cited_by_count":6}],"updated_date":"2026-04-05T17:49:38.594831","created_date":"2025-10-10T00:00:00"}
