{"id":"https://openalex.org/W2807099429","doi":"https://doi.org/10.1093/nar/gky471","title":"VarAFT: a variant annotation and filtration system for human next generation sequencing data","display_name":"VarAFT: a variant annotation and filtration system for human next generation sequencing data","publication_year":2018,"publication_date":"2018-05-16","ids":{"openalex":"https://openalex.org/W2807099429","doi":"https://doi.org/10.1093/nar/gky471","mag":"2807099429","pmid":"https://pubmed.ncbi.nlm.nih.gov/29860484"},"language":"en","primary_location":{"id":"doi:10.1093/nar/gky471","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gky471","pdf_url":"https://academic.oup.com/nar/article-pdf/46/W1/W545/25110397/gky471.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://academic.oup.com/nar/article-pdf/46/W1/W545/25110397/gky471.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5021308349","display_name":"Jean\u2010Pierre Desvignes","orcid":"https://orcid.org/0000-0003-3142-1994"},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I21491767","display_name":"Aix-Marseille Universit\u00e9","ror":"https://ror.org/035xkbk20","country_code":"FR","type":"education","lineage":["https://openalex.org/I21491767"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Jean-Pierre Desvignes","raw_affiliation_strings":["Aix Marseille Univ, INSERM, MMG, 13005,\u00a0Marseille, France"],"affiliations":[{"raw_affiliation_string":"Aix Marseille Univ, INSERM, MMG, 13005,\u00a0Marseille, France","institution_ids":["https://openalex.org/I21491767","https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004146540","display_name":"Marc Bartoli","orcid":"https://orcid.org/0000-0003-3339-9858"},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I21491767","display_name":"Aix-Marseille Universit\u00e9","ror":"https://ror.org/035xkbk20","country_code":"FR","type":"education","lineage":["https://openalex.org/I21491767"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Marc Bartoli","raw_affiliation_strings":["Aix Marseille Univ, INSERM, MMG, 13005,\u00a0Marseille, France"],"affiliations":[{"raw_affiliation_string":"Aix Marseille Univ, INSERM, MMG, 13005,\u00a0Marseille, France","institution_ids":["https://openalex.org/I21491767","https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015396034","display_name":"Val\u00e9rie Delague","orcid":"https://orcid.org/0000-0003-2652-362X"},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I21491767","display_name":"Aix-Marseille Universit\u00e9","ror":"https://ror.org/035xkbk20","country_code":"FR","type":"education","lineage":["https://openalex.org/I21491767"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Val\u00e9rie Delague","raw_affiliation_strings":["Aix Marseille Univ, INSERM, MMG, 13005,\u00a0Marseille, France"],"affiliations":[{"raw_affiliation_string":"Aix Marseille Univ, INSERM, MMG, 13005,\u00a0Marseille, France","institution_ids":["https://openalex.org/I21491767","https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060795663","display_name":"Martin Krahn","orcid":"https://orcid.org/0000-0002-1020-802X"},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I21491767","display_name":"Aix-Marseille Universit\u00e9","ror":"https://ror.org/035xkbk20","country_code":"FR","type":"education","lineage":["https://openalex.org/I21491767"]},{"id":"https://openalex.org/I4210105722","display_name":"H\u00f4pital d'Enfants","ror":"https://ror.org/01gvaa828","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210105722"]},{"id":"https://openalex.org/I4210162909","display_name":"H\u00f4pital de la Timone","ror":"https://ror.org/05jrr4320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210087487","https://openalex.org/I4210162909"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Martin Krahn","raw_affiliation_strings":["APHM, H\u00f4pital d\u2019Enfants de la Timone, D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale et de Biologie Cellulaire, 13385 Marseille, France","Aix Marseille Univ, INSERM, MMG, 13005,\u00a0Marseille, France"],"affiliations":[{"raw_affiliation_string":"APHM, H\u00f4pital d\u2019Enfants de la Timone, D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale et de Biologie Cellulaire, 13385 Marseille, France","institution_ids":["https://openalex.org/I4210162909","https://openalex.org/I4210105722"]},{"raw_affiliation_string":"Aix Marseille Univ, INSERM, MMG, 13005,\u00a0Marseille, France","institution_ids":["https://openalex.org/I21491767","https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052121568","display_name":"Morgane Miltgen","orcid":"https://orcid.org/0000-0002-5230-3631"},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I21491767","display_name":"Aix-Marseille Universit\u00e9","ror":"https://ror.org/035xkbk20","country_code":"FR","type":"education","lineage":["https://openalex.org/I21491767"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Morgane Miltgen","raw_affiliation_strings":["Aix Marseille Univ, INSERM, MMG, 13005,\u00a0Marseille, France"],"affiliations":[{"raw_affiliation_string":"Aix Marseille Univ, INSERM, MMG, 13005,\u00a0Marseille, France","institution_ids":["https://openalex.org/I21491767","https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085042865","display_name":"Christophe B\u00e9roud","orcid":"https://orcid.org/0000-0003-2986-8738"},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I21491767","display_name":"Aix-Marseille Universit\u00e9","ror":"https://ror.org/035xkbk20","country_code":"FR","type":"education","lineage":["https://openalex.org/I21491767"]},{"id":"https://openalex.org/I4210105722","display_name":"H\u00f4pital d'Enfants","ror":"https://ror.org/01gvaa828","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210105722"]},{"id":"https://openalex.org/I4210162909","display_name":"H\u00f4pital de la Timone","ror":"https://ror.org/05jrr4320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210087487","https://openalex.org/I4210162909"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Christophe B\u00e9roud","raw_affiliation_strings":["APHM, H\u00f4pital d\u2019Enfants de la Timone, D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale et de Biologie Cellulaire, 13385 Marseille, France","Aix Marseille Univ, INSERM, MMG, 13005,\u00a0Marseille, France"],"affiliations":[{"raw_affiliation_string":"APHM, H\u00f4pital d\u2019Enfants de la Timone, D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale et de Biologie Cellulaire, 13385 Marseille, France","institution_ids":["https://openalex.org/I4210162909","https://openalex.org/I4210105722"]},{"raw_affiliation_string":"Aix Marseille Univ, INSERM, MMG, 13005,\u00a0Marseille, France","institution_ids":["https://openalex.org/I21491767","https://openalex.org/I154526488"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5063600106","display_name":"David Salgado","orcid":"https://orcid.org/0000-0002-5905-3591"},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I21491767","display_name":"Aix-Marseille Universit\u00e9","ror":"https://ror.org/035xkbk20","country_code":"FR","type":"education","lineage":["https://openalex.org/I21491767"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"David Salgado","raw_affiliation_strings":["Aix Marseille Univ, INSERM, MMG, 13005,\u00a0Marseille, France"],"affiliations":[{"raw_affiliation_string":"Aix Marseille Univ, INSERM, MMG, 13005,\u00a0Marseille, France","institution_ids":["https://openalex.org/I21491767","https://openalex.org/I154526488"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5021308349"],"corresponding_institution_ids":["https://openalex.org/I154526488","https://openalex.org/I21491767"],"apc_list":{"value":3630,"currency":"USD","value_usd":3630},"apc_paid":{"value":3630,"currency":"USD","value_usd":3630},"fwci":13.9454,"has_fulltext":true,"cited_by_count":195,"citation_normalized_percentile":{"value":0.99179487,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":97,"max":100},"biblio":{"volume":"46","issue":"W1","first_page":"W545","last_page":"W553"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9998000264167786,"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":0.9998000264167786,"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9958000183105469,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9907000064849854,"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":0.8104535341262817},{"id":"https://openalex.org/keywords/annotation","display_name":"Annotation","score":0.6781771183013916},{"id":"https://openalex.org/keywords/dna-sequencing","display_name":"DNA sequencing","score":0.6557421684265137},{"id":"https://openalex.org/keywords/mendelian-inheritance","display_name":"Mendelian inheritance","score":0.5832629203796387},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5808285474777222},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.5763964653015137},{"id":"https://openalex.org/keywords/context","display_name":"Context (archaeology)","score":0.5550475716590881},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.5052233338356018},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.4562872052192688},{"id":"https://openalex.org/keywords/gene-annotation","display_name":"Gene Annotation","score":0.44565486907958984},{"id":"https://openalex.org/keywords/human-genome","display_name":"Human genome","score":0.4362964630126953}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8104535341262817},{"id":"https://openalex.org/C2776321320","wikidata":"https://www.wikidata.org/wiki/Q857525","display_name":"Annotation","level":2,"score":0.6781771183013916},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.6557421684265137},{"id":"https://openalex.org/C175783326","wikidata":"https://www.wikidata.org/wiki/Q185055","display_name":"Mendelian inheritance","level":3,"score":0.5832629203796387},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5808285474777222},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5763964653015137},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.5550475716590881},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5052233338356018},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.4562872052192688},{"id":"https://openalex.org/C2908923196","wikidata":"https://www.wikidata.org/wiki/Q5205742","display_name":"Gene Annotation","level":4,"score":0.44565486907958984},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.4362964630126953},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0}],"mesh":[{"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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012326","descriptor_name":"RNA Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012326","descriptor_name":"RNA Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012326","descriptor_name":"RNA Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D040582","descriptor_name":"Inheritance Patterns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D040582","descriptor_name":"Inheritance Patterns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D040582","descriptor_name":"Inheritance Patterns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":"Q000379","qualifier_name":"methods","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":"D063990","descriptor_name":"Gene Ontology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D063990","descriptor_name":"Gene Ontology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D063990","descriptor_name":"Gene Ontology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D066264","descriptor_name":"Datasets as Topic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D066264","descriptor_name":"Datasets as Topic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D066264","descriptor_name":"Datasets as Topic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1093/nar/gky471","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gky471","pdf_url":"https://academic.oup.com/nar/article-pdf/46/W1/W545/25110397/gky471.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},{"id":"pmid:29860484","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29860484","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":"Nucleic acids research","raw_type":null},{"id":"pmh:oai:HAL:hal-01852493v1","is_oa":true,"landing_page_url":"https://amu.hal.science/hal-01852493","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL (Le Centre pour la Communication Scientifique Directe)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1294671590","host_organization_name":"Centre National de la Recherche Scientifique","host_organization_lineage":["https://openalex.org/I1294671590"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nucleic Acids Research, 2018, 46 (W1), pp.W545-W553. &#x27E8;10.1093/nar/gky471&#x27E9;","raw_type":"Journal articles"},{"id":"pmh:oai:HAL:hal-01984051v1","is_oa":false,"landing_page_url":"https://hal-amu.archives-ouvertes.fr/hal-01984051","pdf_url":null,"source":{"id":"https://openalex.org/S4406922393","display_name":"HAL AMU","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":"\\nISSN: \\n0305-1048","raw_type":"\\ninfo:eu-repo/semantics/article\\n"},{"id":"pmh:oai:europepmc.org:4991208","is_oa":false,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6030844","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"}],"best_oa_location":{"id":"doi:10.1093/nar/gky471","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gky471","pdf_url":"https://academic.oup.com/nar/article-pdf/46/W1/W545/25110397/gky471.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G1816994784","display_name":null,"funder_award_id":"FP7/2007-2013","funder_id":"https://openalex.org/F4320333065","funder_display_name":"Seventh Framework Programme"},{"id":"https://openalex.org/G2247631276","display_name":null,"funder_award_id":"305,444","funder_id":"https://openalex.org/F4320333065","funder_display_name":"Seventh Framework Programme"},{"id":"https://openalex.org/G3829048491","display_name":null,"funder_award_id":"FP7/2007-2013","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G5593277320","display_name":null,"funder_award_id":"2007-2013","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G5702163051","display_name":null,"funder_award_id":"FP7/2007","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G8051717526","display_name":null,"funder_award_id":"Grant","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"}],"funders":[{"id":"https://openalex.org/F4320320300","display_name":"European Commission","ror":"https://ror.org/00k4n6c32"},{"id":"https://openalex.org/F4320333065","display_name":"Seventh Framework Programme","ror":null}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2807099429.pdf","grobid_xml":"https://content.openalex.org/works/W2807099429.grobid-xml"},"referenced_works_count":41,"referenced_works":["https://openalex.org/W1490161904","https://openalex.org/W1551770046","https://openalex.org/W1968349406","https://openalex.org/W1984068087","https://openalex.org/W1989277387","https://openalex.org/W2046975204","https://openalex.org/W2053643033","https://openalex.org/W2096766502","https://openalex.org/W2101412130","https://openalex.org/W2102619694","https://openalex.org/W2110256992","https://openalex.org/W2110430166","https://openalex.org/W2117131162","https://openalex.org/W2132123037","https://openalex.org/W2138179408","https://openalex.org/W2145166145","https://openalex.org/W2160995259","https://openalex.org/W2162151166","https://openalex.org/W2165800754","https://openalex.org/W2170282111","https://openalex.org/W2256016639","https://openalex.org/W2262865939","https://openalex.org/W2281926395","https://openalex.org/W2285584854","https://openalex.org/W2342684152","https://openalex.org/W2395964583","https://openalex.org/W2405275595","https://openalex.org/W2417483443","https://openalex.org/W2468887307","https://openalex.org/W2473808428","https://openalex.org/W2510961440","https://openalex.org/W2554756829","https://openalex.org/W2593012284","https://openalex.org/W2594570068","https://openalex.org/W2598723660","https://openalex.org/W2609629609","https://openalex.org/W2621563027","https://openalex.org/W2740984018","https://openalex.org/W2746751314","https://openalex.org/W4239818044","https://openalex.org/W6713841166"],"related_works":["https://openalex.org/W2059565715","https://openalex.org/W2901823680","https://openalex.org/W3126826795","https://openalex.org/W2009940763","https://openalex.org/W4386637333","https://openalex.org/W2946410450","https://openalex.org/W4361192415","https://openalex.org/W2126804125","https://openalex.org/W2162782320","https://openalex.org/W2137318037"],"abstract_inverted_index":{"With":[0],"the":[1,48,52,62,66,85,161],"rapidly":[2,70],"developing":[3],"high-throughput":[4],"sequencing":[5,11,37,53],"technologies":[6,28],"known":[7],"as":[8],"next":[9],"generation":[10],"or":[12,57,135],"NGS,":[13],"our":[14],"approach":[15],"to":[16,34,44,69,88,97,114,128,146,151,184],"gene":[17,32,166],"hunting":[18],"and":[19,38,71,90,108,111,144,170,176],"diagnosis":[20],"has":[21],"drastically":[22],"changed.":[23],"In":[24,149],"<10":[25],"years,":[26],"these":[27],"have":[29],"moved":[30],"from":[31,39,122,154,174],"panel":[33],"whole":[35],"genome":[36],"an":[40],"exclusively":[41],"research":[42,107],"context":[43],"clinical":[45,109],"practice.":[46],"Today,":[47],"limit":[49],"is":[50,68,112,191],"not":[51],"of":[54,78,100,118],"one,":[55],"many":[56],"all":[58,115,130],"genes":[59],"but":[60],"rather":[61],"data":[63],"analysis.":[64],"Consequently,":[65],"challenge":[67],"efficiently":[72],"identify":[73],"disease-causing":[74,93],"mutations":[75,94],"within":[76],"millions":[77],"variants.":[79],"To":[80],"do":[81],"so,":[82],"we":[83],"developed":[84],"VarAFT":[86,102,156,190],"software":[87],"annotate":[89],"pinpoint":[91],"human":[92],"through":[95],"access":[96],"multiple":[98,123],"layers":[99],"information.":[101],"was":[103],"designed":[104],"both":[105],"for":[106],"contexts":[110],"accessible":[113],"scientists,":[116],"regardless":[117],"bioinformatics":[119],"training.":[120],"Data":[121],"samples":[124],"may":[125],"be":[126,142,182],"combined":[127,183],"address":[129],"Mendelian":[131],"inheritance":[132],"modes,":[133],"cancers":[134],"population":[136],"genetics.":[137],"Optimized":[138],"filtration":[139],"parameters":[140],"can":[141,181],"stored":[143],"re-applied":[145],"large":[147],"datasets.":[148],"addition":[150],"classical":[152],"annotations":[153],"dbNSFP,":[155],"contains":[157],"unique":[158],"features":[159],"at":[160],"disease":[162],"(OMIM),":[163],"phenotypic":[164],"(HPO),":[165],"(Gene":[167],"Ontology,":[168],"pathways)":[169],"variation":[171],"levels":[172],"(predictions":[173],"UMD-Predictor":[175],"Human":[177],"Splicing":[178],"Finder)":[179],"that":[180],"optimally":[185],"select":[186],"candidate":[187],"pathogenic":[188],"mutations.":[189],"freely":[192],"available":[193],"at:":[194],"http://varaft.eu.":[195]},"counts_by_year":[{"year":2026,"cited_by_count":5},{"year":2025,"cited_by_count":17},{"year":2024,"cited_by_count":30},{"year":2023,"cited_by_count":31},{"year":2022,"cited_by_count":35},{"year":2021,"cited_by_count":30},{"year":2020,"cited_by_count":24},{"year":2019,"cited_by_count":19},{"year":2018,"cited_by_count":4}],"updated_date":"2026-04-10T15:06:20.359241","created_date":"2025-10-10T00:00:00"}
