{"id":"https://openalex.org/W1945920881","doi":"https://doi.org/10.1093/bib/bbv084","title":"Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment","display_name":"Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment","publication_year":2015,"publication_date":"2015-10-22","ids":{"openalex":"https://openalex.org/W1945920881","doi":"https://doi.org/10.1093/bib/bbv084","mag":"1945920881","pmid":"https://pubmed.ncbi.nlm.nih.gov/26494363"},"language":"en","primary_location":{"id":"doi:10.1093/bib/bbv084","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbv084","pdf_url":"https://academic.oup.com/bib/article-pdf/17/5/841/25416659/bbv084.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":"other-oa","license_id":"https://openalex.org/licenses/other-oa","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/17/5/841/25416659/bbv084.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5016416266","display_name":"Khader Shameer","orcid":"https://orcid.org/0000-0002-9982-1911"},"institutions":[{"id":"https://openalex.org/I177436651","display_name":"Mahatma Gandhi University","ror":"https://ror.org/00h4spn88","country_code":"IN","type":"education","lineage":["https://openalex.org/I177436651"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Khader Shameer","raw_affiliation_strings":["Mahatma Gandhi University, Kottayam"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mahatma Gandhi University, Kottayam","institution_ids":["https://openalex.org/I177436651"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063108133","display_name":"Lokesh P. Tripathi","orcid":"https://orcid.org/0000-0001-5812-2252"},"institutions":[{"id":"https://openalex.org/I11947397","display_name":"Tata Institute of Fundamental Research","ror":"https://ror.org/03ht1xw27","country_code":"IN","type":"education","lineage":["https://openalex.org/I11947397","https://openalex.org/I2799351866","https://openalex.org/I3149292468"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Lokesh P. Tripathi","raw_affiliation_strings":["Tata Institute of Fundamental Research"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Tata Institute of Fundamental Research","institution_ids":["https://openalex.org/I11947397"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085014608","display_name":"Krishna R. Kalari","orcid":"https://orcid.org/0000-0001-8944-8378"},"institutions":[{"id":"https://openalex.org/I1320796813","display_name":"Mount Sinai Health System","ror":"https://ror.org/04kfn4587","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1320796813"]},{"id":"https://openalex.org/I164861460","display_name":"Manipal Academy of Higher Education","ror":"https://ror.org/02xzytt36","country_code":"IN","type":"education","lineage":["https://openalex.org/I164861460"]},{"id":"https://openalex.org/I194223965","display_name":"National Centre for Biological Sciences","ror":"https://ror.org/03gf8rp76","country_code":"IN","type":"facility","lineage":["https://openalex.org/I11947397","https://openalex.org/I194223965","https://openalex.org/I2799351866","https://openalex.org/I3149292468"]},{"id":"https://openalex.org/I4210086383","display_name":"National Institute of Biomedical Innovation, Health and Nutrition","ror":"https://ror.org/001rkbe13","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4210086383"]},{"id":"https://openalex.org/I4210111958","display_name":"Child Health and Development Institute","ror":"https://ror.org/02bns0488","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210111958"]},{"id":"https://openalex.org/I97018004","display_name":"Stanford University","ror":"https://ror.org/00f54p054","country_code":"US","type":"education","lineage":["https://openalex.org/I97018004"]},{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["IN","JP","US"],"is_corresponding":false,"raw_author_name":"Krishna R. Kalari","raw_affiliation_strings":["D. in Biomedical Informatics from Stanford University, CA. Dr","Departments of Biomedical Informatics and Statistics, Health Science Research and Cardiovascular Diseases","Mahatma Gandhi University, Kerala and PhD from Manipal University, Karnataka and","Mount Sinai Health System and Harris Center for Precision Wellness","National Centre for Biological Sciences, Bangalore","National Centre for Biological Sciences, UAS-GKVK campus, Bellary Road, Bangalore 560 065, India","National Institutes of Biomedical Innovation, Health and Nutrition, Osaka, Japan","department of genetics and genomics at Icahn Institute of Multiscale Biology, health policy at Icahn School of Medicine at Mount Sinai, NYC","obtained his PhD in Life Sciences (Computational Biology) from Tata Institute of Fundamental Research and National Centre for Biological Sciences, Bangalore, India","the biomedical informatics programs of Department of Genetics and Genomics, The Icahn Institute for Genomics and Multiscale Biology at Mount Sinai, Clinical and Translational Science Activities, Mount Sinai Health System and Harris Center for Precision Wellness. Dr"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"D. in Biomedical Informatics from Stanford University, CA. Dr","institution_ids":["https://openalex.org/I97018004"]},{"raw_affiliation_string":"Departments of Biomedical Informatics and Statistics, Health Science Research and Cardiovascular Diseases","institution_ids":[]},{"raw_affiliation_string":"Mahatma Gandhi University, Kerala and PhD from Manipal University, Karnataka and","institution_ids":["https://openalex.org/I164861460"]},{"raw_affiliation_string":"Mount Sinai Health System and Harris Center for Precision Wellness","institution_ids":["https://openalex.org/I1320796813"]},{"raw_affiliation_string":"National Centre for Biological Sciences, Bangalore","institution_ids":["https://openalex.org/I194223965"]},{"raw_affiliation_string":"National Centre for Biological Sciences, UAS-GKVK campus, Bellary Road, Bangalore 560 065, India","institution_ids":["https://openalex.org/I194223965"]},{"raw_affiliation_string":"National Institutes of Biomedical Innovation, Health and Nutrition, Osaka, Japan","institution_ids":["https://openalex.org/I4210086383"]},{"raw_affiliation_string":"department of genetics and genomics at Icahn Institute of Multiscale Biology, health policy at Icahn School of Medicine at Mount Sinai, NYC","institution_ids":["https://openalex.org/I4210111958","https://openalex.org/I98704320"]},{"raw_affiliation_string":"obtained his PhD in Life Sciences (Computational Biology) from Tata Institute of Fundamental Research and National Centre for Biological Sciences, Bangalore, India","institution_ids":["https://openalex.org/I194223965"]},{"raw_affiliation_string":"the biomedical informatics programs of Department of Genetics and Genomics, The Icahn Institute for Genomics and Multiscale Biology at Mount Sinai, Clinical and Translational Science Activities, Mount Sinai Health System and Harris Center for Precision Wellness. Dr","institution_ids":["https://openalex.org/I1320796813"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043599202","display_name":"Joel T. Dudley","orcid":"https://orcid.org/0000-0002-7036-6492"},"institutions":[{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Joel T. Dudley","raw_affiliation_strings":["Icahn School of Medicine at Mount Sinai"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Icahn School of Medicine at Mount Sinai","institution_ids":["https://openalex.org/I98704320"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5076779054","display_name":"Ramanathan Sowdhamini","orcid":"https://orcid.org/0000-0002-6642-2367"},"institutions":[{"id":"https://openalex.org/I11947397","display_name":"Tata Institute of Fundamental Research","ror":"https://ror.org/03ht1xw27","country_code":"IN","type":"education","lineage":["https://openalex.org/I11947397","https://openalex.org/I2799351866","https://openalex.org/I3149292468"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Ramanathan Sowdhamini","raw_affiliation_strings":["Tata Institute of Fundamental Research"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Tata Institute of Fundamental Research","institution_ids":["https://openalex.org/I11947397"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":9,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3885,"currency":"USD","value_usd":3885},"apc_paid":{"value":3885,"currency":"USD","value_usd":3885},"fwci":2.5171,"has_fulltext":true,"cited_by_count":34,"citation_normalized_percentile":{"value":0.8955523,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"17","issue":"5","first_page":"841","last_page":"862"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"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"}},"topics":[{"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/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9941999912261963,"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":0.9765999913215637,"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/computational-biology","display_name":"Computational biology","score":0.6479272246360779},{"id":"https://openalex.org/keywords/in-silico","display_name":"In silico","score":0.5573559403419495},{"id":"https://openalex.org/keywords/annotation","display_name":"Annotation","score":0.5359400510787964},{"id":"https://openalex.org/keywords/genomics","display_name":"Genomics","score":0.5053063035011292},{"id":"https://openalex.org/keywords/exome","display_name":"Exome","score":0.4996345043182373},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.48589056730270386},{"id":"https://openalex.org/keywords/functional-genomics","display_name":"Functional genomics","score":0.4808569550514221},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.45735517144203186},{"id":"https://openalex.org/keywords/dna-sequencing","display_name":"DNA sequencing","score":0.44737330079078674},{"id":"https://openalex.org/keywords/translational-bioinformatics","display_name":"Translational bioinformatics","score":0.4248208999633789},{"id":"https://openalex.org/keywords/exome-sequencing","display_name":"Exome sequencing","score":0.4240027070045471},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.35423627495765686},{"id":"https://openalex.org/keywords/bioinformatics","display_name":"Bioinformatics","score":0.30740290880203247},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.2617599070072174},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.1986331343650818},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.14444780349731445}],"concepts":[{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.6479272246360779},{"id":"https://openalex.org/C2775905019","wikidata":"https://www.wikidata.org/wiki/Q192572","display_name":"In silico","level":3,"score":0.5573559403419495},{"id":"https://openalex.org/C2776321320","wikidata":"https://www.wikidata.org/wiki/Q857525","display_name":"Annotation","level":2,"score":0.5359400510787964},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.5053063035011292},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.4996345043182373},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.48589056730270386},{"id":"https://openalex.org/C161078062","wikidata":"https://www.wikidata.org/wiki/Q1068690","display_name":"Functional genomics","level":5,"score":0.4808569550514221},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.45735517144203186},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.44737330079078674},{"id":"https://openalex.org/C163293594","wikidata":"https://www.wikidata.org/wiki/Q7834541","display_name":"Translational bioinformatics","level":5,"score":0.4248208999633789},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.4240027070045471},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.35423627495765686},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.30740290880203247},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2617599070072174},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.1986331343650818},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.14444780349731445}],"mesh":[{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"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":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020543","descriptor_name":"Proteome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020543","descriptor_name":"Proteome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020543","descriptor_name":"Proteome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020543","descriptor_name":"Proteome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1093/bib/bbv084","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbv084","pdf_url":"https://academic.oup.com/bib/article-pdf/17/5/841/25416659/bbv084.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":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},{"id":"pmid:26494363","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26494363","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":"Journal Article"},{"id":"pmh:oai:europepmc.org:5032798","is_oa":false,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6078163","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:open-archive.highwire.org:bib:17/5/841","is_oa":false,"landing_page_url":"http://bib.oxfordjournals.org/cgi/content/short/17/5/841","pdf_url":null,"source":{"id":"https://openalex.org/S4406923041","display_name":"HighWire Press Open Archive","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"TEXT"}],"best_oa_location":{"id":"doi:10.1093/bib/bbv084","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbv084","pdf_url":"https://academic.oup.com/bib/article-pdf/17/5/841/25416659/bbv084.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":"other-oa","license_id":"https://openalex.org/licenses/other-oa","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/G2644106802","display_name":null,"funder_award_id":"R01-DK098242-03","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G49300415","display_name":null,"funder_award_id":"R01 DK098242","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"}],"funders":[{"id":"https://openalex.org/F4320306143","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03"},{"id":"https://openalex.org/F4320312147","display_name":"Mount Sinai Health System","ror":"https://ror.org/04kfn4587"},{"id":"https://openalex.org/F4320320715","display_name":"Tata Institute of Fundamental Research","ror":"https://ror.org/03ht1xw27"},{"id":"https://openalex.org/F4320332167","display_name":"Directorate for Biological Sciences","ror":"https://ror.org/001xhss06"},{"id":"https://openalex.org/F4320333659","display_name":"Center for Individualized Medicine, Mayo Clinic","ror":null},{"id":"https://openalex.org/F4320335065","display_name":"National Centre for Biological Sciences","ror":"https://ror.org/03gf8rp76"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1945920881.pdf","grobid_xml":"https://content.openalex.org/works/W1945920881.grobid-xml"},"referenced_works_count":191,"referenced_works":["https://openalex.org/W318041929","https://openalex.org/W1554521867","https://openalex.org/W1926568554","https://openalex.org/W1963994022","https://openalex.org/W1964481796","https://openalex.org/W1964640688","https://openalex.org/W1965839094","https://openalex.org/W1966029043","https://openalex.org/W1966936568","https://openalex.org/W1966938977","https://openalex.org/W1967239133","https://openalex.org/W1967348039","https://openalex.org/W1967424408","https://openalex.org/W1970054503","https://openalex.org/W1971449260","https://openalex.org/W1973203775","https://openalex.org/W1974196894","https://openalex.org/W1977387387","https://openalex.org/W1979421770","https://openalex.org/W1979483639","https://openalex.org/W1980740976","https://openalex.org/W1980991473","https://openalex.org/W1981482769","https://openalex.org/W1982516282","https://openalex.org/W1984068087","https://openalex.org/W1987493079","https://openalex.org/W1987507232","https://openalex.org/W1989246379","https://openalex.org/W1989773675","https://openalex.org/W1993410654","https://openalex.org/W1993616000","https://openalex.org/W1995716639","https://openalex.org/W1998622939","https://openalex.org/W1998676514","https://openalex.org/W2000559685","https://openalex.org/W2001879017","https://openalex.org/W2002559713","https://openalex.org/W2003605043","https://openalex.org/W2003906818","https://openalex.org/W2006964552","https://openalex.org/W2007425904","https://openalex.org/W2007807048","https://openalex.org/W2012254260","https://openalex.org/W2016170088","https://openalex.org/W2016351953","https://openalex.org/W2017225582","https://openalex.org/W2018780815","https://openalex.org/W2019001773","https://openalex.org/W2020202184","https://openalex.org/W2020620545","https://openalex.org/W2026535872","https://openalex.org/W2027455260","https://openalex.org/W2029182773","https://openalex.org/W2030776726","https://openalex.org/W2031697221","https://openalex.org/W2031772330","https://openalex.org/W2031903428","https://openalex.org/W2031950862","https://openalex.org/W2032836888","https://openalex.org/W2033850030","https://openalex.org/W2034660710","https://openalex.org/W2035078576","https://openalex.org/W2036198235","https://openalex.org/W2036454087","https://openalex.org/W2039737743","https://openalex.org/W2043355615","https://openalex.org/W2044286001","https://openalex.org/W2044573154","https://openalex.org/W2045729458","https://openalex.org/W2045777307","https://openalex.org/W2045820581","https://openalex.org/W2046601740","https://openalex.org/W2048947602","https://openalex.org/W2049837425","https://openalex.org/W2050525925","https://openalex.org/W2052606462","https://openalex.org/W2054185647","https://openalex.org/W2055043387","https://openalex.org/W2056076867","https://openalex.org/W2057545775","https://openalex.org/W2057571594","https://openalex.org/W2058087601","https://openalex.org/W2059145105","https://openalex.org/W2063040470","https://openalex.org/W2063274819","https://openalex.org/W2063857715","https://openalex.org/W2069303969","https://openalex.org/W2070335941","https://openalex.org/W2074166146","https://openalex.org/W2077318478","https://openalex.org/W2078744455","https://openalex.org/W2079859830","https://openalex.org/W2079873244","https://openalex.org/W2081797865","https://openalex.org/W2082340690","https://openalex.org/W2084974619","https://openalex.org/W2085656056","https://openalex.org/W2089652064","https://openalex.org/W2090359119","https://openalex.org/W2094576610","https://openalex.org/W2096054712","https://openalex.org/W2096791516","https://openalex.org/W2096824774","https://openalex.org/W2097891553","https://openalex.org/W2099092270","https://openalex.org/W2103166281","https://openalex.org/W2103184242","https://openalex.org/W2107606833","https://openalex.org/W2108925261","https://openalex.org/W2110687686","https://openalex.org/W2111910558","https://openalex.org/W2112646971","https://openalex.org/W2112848098","https://openalex.org/W2113582954","https://openalex.org/W2113649367","https://openalex.org/W2114830914","https://openalex.org/W2115210920","https://openalex.org/W2115699490","https://openalex.org/W2115759361","https://openalex.org/W2116435022","https://openalex.org/W2116753165","https://openalex.org/W2116868464","https://openalex.org/W2118246164","https://openalex.org/W2118914815","https://openalex.org/W2119109240","https://openalex.org/W2119412782","https://openalex.org/W2119833790","https://openalex.org/W2120679988","https://openalex.org/W2121959864","https://openalex.org/W2122630333","https://openalex.org/W2122732537","https://openalex.org/W2123171788","https://openalex.org/W2123733209","https://openalex.org/W2123921145","https://openalex.org/W2127648442","https://openalex.org/W2128601422","https://openalex.org/W2130581715","https://openalex.org/W2130599655","https://openalex.org/W2130610275","https://openalex.org/W2130958518","https://openalex.org/W2134783591","https://openalex.org/W2136452881","https://openalex.org/W2136850043","https://openalex.org/W2136983648","https://openalex.org/W2137529106","https://openalex.org/W2142320568","https://openalex.org/W2142767173","https://openalex.org/W2143210482","https://openalex.org/W2143593035","https://openalex.org/W2143602768","https://openalex.org/W2144368480","https://openalex.org/W2144655298","https://openalex.org/W2145191876","https://openalex.org/W2145809383","https://openalex.org/W2149195137","https://openalex.org/W2149992227","https://openalex.org/W2152274187","https://openalex.org/W2152801130","https://openalex.org/W2154141963","https://openalex.org/W2154866190","https://openalex.org/W2155521690","https://openalex.org/W2155844132","https://openalex.org/W2156491752","https://openalex.org/W2156575953","https://openalex.org/W2158116492","https://openalex.org/W2158714788","https://openalex.org/W2159294428","https://openalex.org/W2160906984","https://openalex.org/W2160925669","https://openalex.org/W2160938004","https://openalex.org/W2160995259","https://openalex.org/W2161978970","https://openalex.org/W2162212014","https://openalex.org/W2162600537","https://openalex.org/W2162927194","https://openalex.org/W2163480486","https://openalex.org/W2163721943","https://openalex.org/W2163798887","https://openalex.org/W2164004777","https://openalex.org/W2167852161","https://openalex.org/W2168614691","https://openalex.org/W2170089054","https://openalex.org/W2170844153","https://openalex.org/W2170892256","https://openalex.org/W2171137597","https://openalex.org/W2240027552","https://openalex.org/W2397717620","https://openalex.org/W2547776067","https://openalex.org/W2915108429","https://openalex.org/W4236236547","https://openalex.org/W4237293127"],"related_works":["https://openalex.org/W2093932542","https://openalex.org/W2043256480","https://openalex.org/W2106924416","https://openalex.org/W2772505697","https://openalex.org/W3083501552","https://openalex.org/W2400191746","https://openalex.org/W1983406990","https://openalex.org/W2484239316","https://openalex.org/W3024198590","https://openalex.org/W4367844067"],"abstract_inverted_index":{"Accurate":[0],"assessment":[1,117,228,236],"of":[2,45,57,62,77,113,133,149,159,176,190,199,208,234],"genetic":[3],"variation":[4],"in":[5,14,40,67,114,137,214],"human":[6],"DNA":[7],"sequencing":[8,34],"studies":[9],"remains":[10],"a":[11,32,215,223],"nontrivial":[12],"challenge":[13],"clinical":[15,24],"genomics":[16],"and":[17,88,94,102,157,170,181,230],"genome":[18,41],"informatics.":[19],"Ascribing":[20],"functional":[21,49,58,131,192],"roles":[22],"and/or":[23,59],"significances":[25],"to":[26,129,225],"single":[27,134,161],"nucleotide":[28,135,162],"variants":[29,50,136],"identified":[30],"from":[31,173],"next-generation":[33],"study":[35],"is":[36,51,70],"an":[37,71,147],"important":[38,72,211],"step":[39,73],"interpretation.":[42],"Experimental":[43],"characterization":[44],"all":[46],"the":[47,55,63,75,89,104,111,120,138,150,154,166,174,188,197,205,209],"observed":[48],"yet":[52],"impractical;":[53],"thus,":[54],"prediction":[56],"regulatory":[60],"impacts":[61],"various":[64,108],"mutations":[65],"using":[66],"silico":[68,115],"approaches":[69,169,229],"toward":[74],"identification":[76],"functionally":[78,210],"significant":[79],"or":[80,218],"clinically":[81],"actionable":[82],"variants.":[83,163,193],"The":[84],"relationships":[85,98],"between":[86],"genotypes":[87],"expressed":[90],"phenotypes":[91],"are":[92],"multilayered":[93],"biologically":[95],"complex;":[96],"such":[97],"present":[99],"numerous":[100],"challenges":[101,172],"at":[103],"same":[105],"time":[106],"offer":[107],"opportunities":[109],"for":[110,153,203,232],"design":[112],"variant":[116,227,235],"strategies.":[118],"Over":[119],"past":[121],"decade,":[122],"many":[123],"bioinformatics":[124,151],"algorithms":[125],"have":[126],"been":[127],"developed":[128],"predict":[130],"consequences":[132],"protein":[139,177],"coding":[140,160],"regions.":[141],"In":[142],"this":[143],"review,":[144],"we":[145,221],"provide":[146],"overview":[148],"resources":[152],"prediction,":[155],"annotation":[156],"visualization":[158],"We":[164,194],"discuss":[165,196],"currently":[167],"available":[168],"major":[171],"perspective":[175],"sequence,":[178],"structure,":[179],"function":[180],"interactions":[182],"that":[183],"require":[184],"consideration":[185],"when":[186],"interpreting":[187],"impact":[189,207],"putatively":[191],"also":[195],"relevance":[198],"incorporating":[200],"integrated":[201],"workflows":[202],"predicting":[204],"biomedical":[206],"variations":[212],"encoded":[213],"genome,":[216],"exome":[217],"transcriptome.":[219],"Finally,":[220],"propose":[222],"framework":[224],"classify":[226],"strategies":[231],"incorporation":[233],"within":[237],"electronic":[238],"health":[239],"records.":[240]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":7},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":3}],"updated_date":"2026-08-26T07:47:46.906454","created_date":"2025-10-10T00:00:00"}
