{"id":"https://openalex.org/W2951373902","doi":"https://doi.org/10.1371/journal.pcbi.1007112","title":"Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome","display_name":"Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome","publication_year":2019,"publication_date":"2019-06-14","ids":{"openalex":"https://openalex.org/W2951373902","doi":"https://doi.org/10.1371/journal.pcbi.1007112","mag":"2951373902","pmid":"https://pubmed.ncbi.nlm.nih.gov/31199787"},"language":"en","primary_location":{"id":"doi:10.1371/journal.pcbi.1007112","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1007112","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1007112&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.1007112&type=printable","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5033880036","display_name":"Kymberleigh A. Pagel","orcid":"https://orcid.org/0000-0001-8544-9250"},"institutions":[{"id":"https://openalex.org/I4210119109","display_name":"Indiana University Bloomington","ror":"https://ror.org/02k40bc56","country_code":"US","type":"education","lineage":["https://openalex.org/I4210119109","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kymberleigh A. Pagel","raw_affiliation_strings":["School of Informatics, Computing, and Engineering, Indiana University, Bloomington, Indiana, United States of America"],"affiliations":[{"raw_affiliation_string":"School of Informatics, Computing, and Engineering, Indiana University, Bloomington, Indiana, United States of America","institution_ids":["https://openalex.org/I4210119109"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089549807","display_name":"Danny Antaki","orcid":"https://orcid.org/0000-0003-0381-7801"},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California, San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Danny Antaki","raw_affiliation_strings":["Department of Psychiatry, University of California San Diego, La Jolla, California, United States of America"],"affiliations":[{"raw_affiliation_string":"Department of Psychiatry, University of California San Diego, La Jolla, California, United States of America","institution_ids":["https://openalex.org/I36258959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025301785","display_name":"Aojie Lian","orcid":"https://orcid.org/0000-0002-5334-5323"},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]},{"id":"https://openalex.org/I36258959","display_name":"University of California, San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["CN","US"],"is_corresponding":false,"raw_author_name":"AoJie Lian","raw_affiliation_strings":["Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, China","Department of Psychiatry, University of California San Diego, La Jolla, California, United States of America"],"affiliations":[{"raw_affiliation_string":"Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, China","institution_ids":["https://openalex.org/I139660479"]},{"raw_affiliation_string":"Department of Psychiatry, University of California San Diego, La Jolla, California, United States of America","institution_ids":["https://openalex.org/I36258959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039958070","display_name":"Matthew Mort","orcid":"https://orcid.org/0000-0002-3986-0935"},"institutions":[{"id":"https://openalex.org/I79510175","display_name":"Cardiff University","ror":"https://ror.org/03kk7td41","country_code":"GB","type":"education","lineage":["https://openalex.org/I79510175"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Matthew Mort","raw_affiliation_strings":["Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom"],"affiliations":[{"raw_affiliation_string":"Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom","institution_ids":["https://openalex.org/I79510175"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042443600","display_name":"D.N. Cooper","orcid":"https://orcid.org/0000-0002-8943-8484"},"institutions":[{"id":"https://openalex.org/I79510175","display_name":"Cardiff University","ror":"https://ror.org/03kk7td41","country_code":"GB","type":"education","lineage":["https://openalex.org/I79510175"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"David N. Cooper","raw_affiliation_strings":["Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom"],"affiliations":[{"raw_affiliation_string":"Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom","institution_ids":["https://openalex.org/I79510175"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088728907","display_name":"Jonathan Sebat","orcid":"https://orcid.org/0000-0002-9087-526X"},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California, San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jonathan Sebat","raw_affiliation_strings":["Department of Psychiatry, University of California San Diego, La Jolla, California, United States of America"],"affiliations":[{"raw_affiliation_string":"Department of Psychiatry, University of California San Diego, La Jolla, California, United States of America","institution_ids":["https://openalex.org/I36258959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003090019","display_name":"Lilia M. Iakoucheva","orcid":"https://orcid.org/0000-0002-4542-5219"},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California, San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lilia M. Iakoucheva","raw_affiliation_strings":["Department of Psychiatry, University of California San Diego, La Jolla, California, United States of America"],"affiliations":[{"raw_affiliation_string":"Department of Psychiatry, University of California San Diego, La Jolla, California, United States of America","institution_ids":["https://openalex.org/I36258959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066000877","display_name":"Sean D. Mooney","orcid":"https://orcid.org/0000-0003-2654-0833"},"institutions":[{"id":"https://openalex.org/I2801852214","display_name":"University of Washington Medical Center","ror":"https://ror.org/00wbzw723","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2801852214"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sean D. Mooney","raw_affiliation_strings":["Department of Biomedical Informatics and Medical Education, University of Washington, Seattle, Washington, United States of America"],"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics and Medical Education, University of Washington, Seattle, Washington, United States of America","institution_ids":["https://openalex.org/I2801852214"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5051324698","display_name":"Predrag Radivojac","orcid":"https://orcid.org/0000-0002-6769-0793"},"institutions":[{"id":"https://openalex.org/I12912129","display_name":"Northeastern University","ror":"https://ror.org/04t5xt781","country_code":"US","type":"education","lineage":["https://openalex.org/I12912129"]},{"id":"https://openalex.org/I4210119109","display_name":"Indiana University Bloomington","ror":"https://ror.org/02k40bc56","country_code":"US","type":"education","lineage":["https://openalex.org/I4210119109","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Predrag Radivojac","raw_affiliation_strings":["Khoury College of Computer Sciences, Northeastern University, Boston, Massachusetts, United States of America","School of Informatics, Computing, and Engineering, Indiana University, Bloomington, Indiana, United States of America"],"affiliations":[{"raw_affiliation_string":"Khoury College of Computer Sciences, Northeastern University, Boston, Massachusetts, United States of America","institution_ids":["https://openalex.org/I12912129"]},{"raw_affiliation_string":"School of Informatics, Computing, and Engineering, Indiana University, Bloomington, Indiana, United States of America","institution_ids":["https://openalex.org/I4210119109"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":9,"corresponding_author_ids":["https://openalex.org/A5051324698"],"corresponding_institution_ids":["https://openalex.org/I12912129","https://openalex.org/I4210119109"],"apc_list":{"value":2655,"currency":"USD","value_usd":2655},"apc_paid":{"value":2655,"currency":"USD","value_usd":2655},"fwci":2.569,"has_fulltext":true,"cited_by_count":79,"citation_normalized_percentile":{"value":0.90468357,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":90,"max":100},"biblio":{"volume":"15","issue":"6","first_page":"e1007112","last_page":"e1007112"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","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/T10015","display_name":"Genomics and Phylogenetic Studies","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/T11642","display_name":"Genomics and Rare Diseases","score":0.9984999895095825,"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/T11482","display_name":"RNA modifications and cancer","score":0.9976999759674072,"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/indel","display_name":"Indel","score":0.9106807708740234},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.7337453961372375},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.7223947048187256},{"id":"https://openalex.org/keywords/indel-mutation","display_name":"INDEL Mutation","score":0.5740659832954407},{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"Copy-number variation","score":0.5714085698127747},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"Frameshift mutation","score":0.5585294365882874},{"id":"https://openalex.org/keywords/translational-frameshift","display_name":"Translational frameshift","score":0.5171410441398621},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.475761353969574},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.4234028458595276},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.4198254346847534},{"id":"https://openalex.org/keywords/human-genome","display_name":"Human genome","score":0.4148685336112976},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.3425365686416626},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.17727360129356384},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.16457140445709229}],"concepts":[{"id":"https://openalex.org/C119054055","wikidata":"https://www.wikidata.org/wiki/Q1576681","display_name":"Indel","level":5,"score":0.9106807708740234},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7337453961372375},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7223947048187256},{"id":"https://openalex.org/C2910714999","wikidata":"https://www.wikidata.org/wiki/Q1576681","display_name":"INDEL Mutation","level":5,"score":0.5740659832954407},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.5714085698127747},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.5585294365882874},{"id":"https://openalex.org/C95811502","wikidata":"https://www.wikidata.org/wiki/Q7322407","display_name":"Translational frameshift","level":5,"score":0.5171410441398621},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.475761353969574},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.4234028458595276},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4198254346847534},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.4148685336112976},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3425365686416626},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.17727360129356384},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.16457140445709229}],"mesh":[{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D000069550","descriptor_name":"Machine Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000069550","descriptor_name":"Machine Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000069550","descriptor_name":"Machine Learning","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":"D012372","descriptor_name":"ROC Curve","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012372","descriptor_name":"ROC Curve","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012372","descriptor_name":"ROC Curve","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":"D015894","descriptor_name":"Genome, Human","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D054643","descriptor_name":"INDEL Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D054643","descriptor_name":"INDEL Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D054643","descriptor_name":"INDEL Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D054643","descriptor_name":"INDEL Mutation","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D054643","descriptor_name":"INDEL Mutation","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D054643","descriptor_name":"INDEL Mutation","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true}],"locations_count":6,"locations":[{"id":"doi:10.1371/journal.pcbi.1007112","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1007112","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1007112&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:31199787","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31199787","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:https://orca.cardiff.ac.uk:124119","is_oa":false,"landing_page_url":null,"pdf_url":null,"source":{"id":"https://openalex.org/S4306401195","display_name":"ORCA Online Research @Cardiff (Cardiff University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I79510175","host_organization_name":"Cardiff University","host_organization_lineage":["https://openalex.org/I79510175"],"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":"PeerReviewed"},{"id":"pmh:oai:RePEc:plo:pcbi00:1007112","is_oa":false,"landing_page_url":"https://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1007112","pdf_url":null,"source":{"id":"https://openalex.org/S4306401271","display_name":"RePEc: Research Papers in Economics","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I77793887","host_organization_name":"Federal Reserve Bank of St. Louis","host_organization_lineage":["https://openalex.org/I77793887"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article"},{"id":"pmh:oai:doaj.org/article:c58743cc8e6943eb9bb3d5caa0495351","is_oa":true,"landing_page_url":"https://doaj.org/article/c58743cc8e6943eb9bb3d5caa0495351","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 15, Iss 6, p e1007112 (2019)","raw_type":"article"},{"id":"pmh:oai:europepmc.org:5576781","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6594643","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"}],"best_oa_location":{"id":"doi:10.1371/journal.pcbi.1007112","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1007112","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1007112&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":[],"awards":[{"id":"https://openalex.org/G3347272303","display_name":null,"funder_award_id":"345469","funder_id":"https://openalex.org/F4320315019","funder_display_name":"Simons Foundation Autism Research Initiative"},{"id":"https://openalex.org/G4099270370","display_name":null,"funder_award_id":"Award","funder_id":"https://openalex.org/F4320306164","funder_display_name":"Simons Foundation"},{"id":"https://openalex.org/G4372618095","display_name":null,"funder_award_id":"SFARI","funder_id":"https://openalex.org/F4320306164","funder_display_name":"Simons Foundation"},{"id":"https://openalex.org/G460346039","display_name":null,"funder_award_id":"345469","funder_id":"https://openalex.org/F4320306164","funder_display_name":"Simons Foundation"}],"funders":[{"id":"https://openalex.org/F4320306076","display_name":"National Science Foundation","ror":"https://ror.org/021nxhr62"},{"id":"https://openalex.org/F4320306164","display_name":"Simons Foundation","ror":"https://ror.org/01cmst727"},{"id":"https://openalex.org/F4320310295","display_name":"Autism Science Foundation","ror":"https://ror.org/03063wv95"},{"id":"https://openalex.org/F4320315019","display_name":"Simons Foundation Autism Research Initiative","ror":"https://ror.org/01cmst727"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2951373902.pdf","grobid_xml":"https://content.openalex.org/works/W2951373902.grobid-xml"},"referenced_works_count":91,"referenced_works":["https://openalex.org/W1507275725","https://openalex.org/W1792685479","https://openalex.org/W1900984040","https://openalex.org/W1964773414","https://openalex.org/W1975622992","https://openalex.org/W1976815080","https://openalex.org/W1982564236","https://openalex.org/W1984068087","https://openalex.org/W1986524996","https://openalex.org/W1992880766","https://openalex.org/W1996641286","https://openalex.org/W2000391750","https://openalex.org/W2003810144","https://openalex.org/W2008100404","https://openalex.org/W2008627757","https://openalex.org/W2024364470","https://openalex.org/W2031697221","https://openalex.org/W2037048830","https://openalex.org/W2044433401","https://openalex.org/W2059446387","https://openalex.org/W2060791849","https://openalex.org/W2063274819","https://openalex.org/W2072572998","https://openalex.org/W2076048958","https://openalex.org/W2079317986","https://openalex.org/W2082036307","https://openalex.org/W2088101922","https://openalex.org/W2089335658","https://openalex.org/W2092387745","https://openalex.org/W2092741708","https://openalex.org/W2098513839","https://openalex.org/W2101557761","https://openalex.org/W2102140136","https://openalex.org/W2104549677","https://openalex.org/W2107158607","https://openalex.org/W2108994842","https://openalex.org/W2117491433","https://openalex.org/W2121519777","https://openalex.org/W2124052876","https://openalex.org/W2130958518","https://openalex.org/W2132746753","https://openalex.org/W2134672568","https://openalex.org/W2141014201","https://openalex.org/W2143908786","https://openalex.org/W2145225004","https://openalex.org/W2148152877","https://openalex.org/W2148875515","https://openalex.org/W2150686509","https://openalex.org/W2153544371","https://openalex.org/W2154595610","https://openalex.org/W2156799643","https://openalex.org/W2157585454","https://openalex.org/W2158714788","https://openalex.org/W2160995259","https://openalex.org/W2165253681","https://openalex.org/W2167949449","https://openalex.org/W2168970921","https://openalex.org/W2169243280","https://openalex.org/W2171137597","https://openalex.org/W2174602966","https://openalex.org/W2194510225","https://openalex.org/W2256016639","https://openalex.org/W2320983896","https://openalex.org/W2331480251","https://openalex.org/W2345331290","https://openalex.org/W2375577403","https://openalex.org/W2465029969","https://openalex.org/W2466501638","https://openalex.org/W2506784803","https://openalex.org/W2516988875","https://openalex.org/W2558692177","https://openalex.org/W2587201309","https://openalex.org/W2593143217","https://openalex.org/W2604078450","https://openalex.org/W2612293414","https://openalex.org/W2613613490","https://openalex.org/W2734891494","https://openalex.org/W2749499006","https://openalex.org/W2756358680","https://openalex.org/W2779603631","https://openalex.org/W2799343775","https://openalex.org/W2883814060","https://openalex.org/W2884807099","https://openalex.org/W2905130244","https://openalex.org/W2951164835","https://openalex.org/W2962745351","https://openalex.org/W3104285666","https://openalex.org/W3143994221","https://openalex.org/W6630380749","https://openalex.org/W6675234955","https://openalex.org/W6676179870"],"related_works":["https://openalex.org/W2029038593","https://openalex.org/W3001501520","https://openalex.org/W1981266226","https://openalex.org/W1999808444","https://openalex.org/W1978326447","https://openalex.org/W2106019293","https://openalex.org/W2157138449","https://openalex.org/W3174716625","https://openalex.org/W3161117360","https://openalex.org/W2125459609"],"abstract_inverted_index":{"Differentiation":[0],"between":[1],"phenotypically":[2],"neutral":[3],"and":[4,11,21,46,72,81,88,94,163],"disease-causing":[5],"genetic":[6],"variation":[7,101,110],"remains":[8],"an":[9,25],"open":[10],"relevant":[12],"problem.":[13],"Among":[14],"different":[15,117],"types":[16,48],"of":[17,49,116,134,160,167],"variation,":[18],"non-frameshifting":[19,54,168],"insertions":[20],"deletions":[22],"(indels)":[23],"represent":[24],"understudied":[26],"group":[27],"with":[28,127],"widespread":[29],"phenotypic":[30],"consequences.":[31],"To":[32],"address":[33],"this":[34],"challenge,":[35],"we":[36,152],"present":[37,153],"a":[38,154],"machine":[39],"learning":[40],"method,":[41],"MutPred-Indel,":[42],"that":[43],"predicts":[44],"pathogenicity":[45,135,162],"identifies":[47],"functional":[50,73,95,165],"residues":[51,74],"impacted":[52,70,97],"by":[53,99,139],"insertion/deletion":[55,169],"variation.":[56,150],"The":[57,171],"model":[58],"shows":[59],"good":[60],"predictive":[61],"performance":[62],"as":[63,65,119,121],"well":[64,120],"the":[66,103,114,132,158,164],"ability":[67],"to":[68,143,156],"identify":[69,92],"structural":[71,93],"including":[75],"secondary":[76],"structure,":[77],"intrinsic":[78],"disorder,":[79],"metal":[80],"macromolecular":[82],"binding,":[83],"post-translational":[84],"modifications,":[85],"allosteric":[86],"sites,":[87],"catalytic":[89],"residues.":[90],"We":[91],"mechanisms":[96],"preferentially":[98],"germline":[100],"from":[102,111,125,147],"Human":[104],"Gene":[105],"Mutation":[106],"Database,":[107],"recurrent":[108,146],"somatic":[109,149],"COSMIC":[112],"in":[113],"context":[115],"cancers,":[118],"de":[122],"novo":[123],"variants":[124],"families":[126],"autism":[128],"spectrum":[129],"disorder.":[130],"Further,":[131],"distributions":[133],"prediction":[136],"scores":[137],"generated":[138],"MutPred-Indel":[140,172],"are":[141],"shown":[142],"differentiate":[144],"highly":[145],"non-recurrent":[148],"Collectively,":[151],"framework":[155],"facilitate":[157],"interrogation":[159],"both":[161],"effects":[166],"variants.":[170],"webserver":[173],"is":[174],"available":[175],"at":[176],"http://mutpred.mutdb.org/.":[177]},"counts_by_year":[{"year":2026,"cited_by_count":7},{"year":2025,"cited_by_count":9},{"year":2024,"cited_by_count":25},{"year":2023,"cited_by_count":7},{"year":2022,"cited_by_count":12},{"year":2021,"cited_by_count":11},{"year":2020,"cited_by_count":7},{"year":2018,"cited_by_count":1}],"updated_date":"2026-03-14T08:43:22.919905","created_date":"2025-10-10T00:00:00"}
