{"id":"https://openalex.org/W4391232231","doi":"https://doi.org/10.1093/bib/bbad508","title":"Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges","display_name":"Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges","publication_year":2024,"publication_date":"2024-01-22","ids":{"openalex":"https://openalex.org/W4391232231","doi":"https://doi.org/10.1093/bib/bbad508","pmid":"https://pubmed.ncbi.nlm.nih.gov/38271481"},"language":"en","primary_location":{"id":"doi:10.1093/bib/bbad508","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbad508","pdf_url":"https://academic.oup.com/bib/article-pdf/25/2/bbad508/56346921/bbad508.pdf","source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},"type":"review","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://academic.oup.com/bib/article-pdf/25/2/bbad508/56346921/bbad508.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5050468948","display_name":"Yury A. Barbitoff","orcid":"https://orcid.org/0000-0002-3222-440X"},"institutions":[{"id":"https://openalex.org/I4210089964","display_name":"Research Institute of Obstetrics and Gynecology named after D.O. Ott","ror":"https://ror.org/009qtkb56","country_code":"RU","type":"facility","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210089964","https://openalex.org/I4210110862"]},{"id":"https://openalex.org/I4210137637","display_name":"Bioinformatics Institute","ror":"https://ror.org/04btxg914","country_code":"RU","type":"nonprofit","lineage":["https://openalex.org/I4210137637"]}],"countries":["RU"],"is_corresponding":true,"raw_author_name":"Yury A Barbitoff","raw_affiliation_strings":["Bioinformatics Institute , Kentemirovskaya st. 2A, 197342, St. Petersburg , Russia","Dpt. of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology , Mendeleevskaya line 3, 199034, St. Petersburg , Russia"],"affiliations":[{"raw_affiliation_string":"Bioinformatics Institute , Kentemirovskaya st. 2A, 197342, St. Petersburg , Russia","institution_ids":["https://openalex.org/I4210137637"]},{"raw_affiliation_string":"Dpt. of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology , Mendeleevskaya line 3, 199034, St. Petersburg , Russia","institution_ids":["https://openalex.org/I4210089964"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054062352","display_name":"Mikhail O. Ushakov","orcid":null},"institutions":[{"id":"https://openalex.org/I4210089964","display_name":"Research Institute of Obstetrics and Gynecology named after D.O. Ott","ror":"https://ror.org/009qtkb56","country_code":"RU","type":"facility","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210089964","https://openalex.org/I4210110862"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Mikhail O Ushakov","raw_affiliation_strings":["Dpt. of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology , Mendeleevskaya line 3, 199034, St. Petersburg , Russia"],"affiliations":[{"raw_affiliation_string":"Dpt. of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology , Mendeleevskaya line 3, 199034, St. Petersburg , Russia","institution_ids":["https://openalex.org/I4210089964"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003172251","display_name":"Tatyana E. Lazareva","orcid":"https://orcid.org/0000-0002-8990-4748"},"institutions":[{"id":"https://openalex.org/I4210089964","display_name":"Research Institute of Obstetrics and Gynecology named after D.O. Ott","ror":"https://ror.org/009qtkb56","country_code":"RU","type":"facility","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210089964","https://openalex.org/I4210110862"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Tatyana E Lazareva","raw_affiliation_strings":["Dpt. of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology , Mendeleevskaya line 3, 199034, St. Petersburg , Russia"],"affiliations":[{"raw_affiliation_string":"Dpt. of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology , Mendeleevskaya line 3, 199034, St. Petersburg , Russia","institution_ids":["https://openalex.org/I4210089964"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055710016","display_name":"Yulia A. Nasykhova","orcid":"https://orcid.org/0000-0002-3543-4963"},"institutions":[{"id":"https://openalex.org/I4210089964","display_name":"Research Institute of Obstetrics and Gynecology named after D.O. Ott","ror":"https://ror.org/009qtkb56","country_code":"RU","type":"facility","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210089964","https://openalex.org/I4210110862"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Yulia A Nasykhova","raw_affiliation_strings":["Dpt. of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology , Mendeleevskaya line 3, 199034, St. Petersburg , Russia"],"affiliations":[{"raw_affiliation_string":"Dpt. of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology , Mendeleevskaya line 3, 199034, St. Petersburg , Russia","institution_ids":["https://openalex.org/I4210089964"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086194186","display_name":"\u0410ndrey S. Glotov","orcid":"https://orcid.org/0000-0002-7465-4504"},"institutions":[{"id":"https://openalex.org/I4210089964","display_name":"Research Institute of Obstetrics and Gynecology named after D.O. Ott","ror":"https://ror.org/009qtkb56","country_code":"RU","type":"facility","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210089964","https://openalex.org/I4210110862"]}],"countries":["RU"],"is_corresponding":true,"raw_author_name":"Andrey S Glotov","raw_affiliation_strings":["Dpt. of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology , Mendeleevskaya line 3, 199034, St. Petersburg , Russia"],"affiliations":[{"raw_affiliation_string":"Dpt. of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology , Mendeleevskaya line 3, 199034, St. Petersburg , Russia","institution_ids":["https://openalex.org/I4210089964"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5051727694","display_name":"Alexander V. Predeus","orcid":"https://orcid.org/0000-0002-2750-1599"},"institutions":[{"id":"https://openalex.org/I4210137637","display_name":"Bioinformatics Institute","ror":"https://ror.org/04btxg914","country_code":"RU","type":"nonprofit","lineage":["https://openalex.org/I4210137637"]}],"countries":["RU"],"is_corresponding":true,"raw_author_name":"Alexander V Predeus","raw_affiliation_strings":["Bioinformatics Institute , Kentemirovskaya st. 2A, 197342, St. Petersburg , Russia"],"affiliations":[{"raw_affiliation_string":"Bioinformatics Institute , Kentemirovskaya st. 2A, 197342, St. Petersburg , Russia","institution_ids":["https://openalex.org/I4210137637"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5050468948","https://openalex.org/A5051727694","https://openalex.org/A5086194186"],"corresponding_institution_ids":["https://openalex.org/I4210089964","https://openalex.org/I4210137637"],"apc_list":{"value":4011,"currency":"USD","value_usd":4011},"apc_paid":{"value":4011,"currency":"USD","value_usd":4011},"fwci":8.2591,"has_fulltext":true,"cited_by_count":15,"citation_normalized_percentile":{"value":0.97724441,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":98,"max":100},"biblio":{"volume":"25","issue":"2","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9994999766349792,"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":0.9994999766349792,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9976999759674072,"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":0.9898999929428101,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.6482767462730408},{"id":"https://openalex.org/keywords/exome","display_name":"Exome","score":0.6070566177368164},{"id":"https://openalex.org/keywords/exome-sequencing","display_name":"Exome sequencing","score":0.6069512963294983},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5986768007278442},{"id":"https://openalex.org/keywords/genomics","display_name":"Genomics","score":0.5872507095336914},{"id":"https://openalex.org/keywords/human-genome","display_name":"Human genome","score":0.561626672744751},{"id":"https://openalex.org/keywords/dna-sequencing","display_name":"DNA sequencing","score":0.4955655336380005},{"id":"https://openalex.org/keywords/whole-genome-sequencing","display_name":"Whole genome sequencing","score":0.4769671857357025},{"id":"https://openalex.org/keywords/germline","display_name":"Germline","score":0.44812601804733276},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.4341464042663574},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.3849189281463623},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.21222293376922607},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.18157124519348145}],"concepts":[{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.6482767462730408},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.6070566177368164},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.6069512963294983},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5986768007278442},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.5872507095336914},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.561626672744751},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.4955655336380005},{"id":"https://openalex.org/C24432333","wikidata":"https://www.wikidata.org/wiki/Q2068526","display_name":"Whole genome sequencing","level":4,"score":0.4769671857357025},{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.44812601804733276},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4341464042663574},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3849189281463623},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.21222293376922607},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.18157124519348145}],"mesh":[{"descriptor_ui":"D005854","descriptor_name":"Germ Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005854","descriptor_name":"Germ Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005854","descriptor_name":"Germ Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005854","descriptor_name":"Germ Cells","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":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","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":true},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":3,"locations":[{"id":"doi:10.1093/bib/bbad508","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbad508","pdf_url":"https://academic.oup.com/bib/article-pdf/25/2/bbad508/56346921/bbad508.pdf","source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},{"id":"pmid:38271481","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/38271481","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in bioinformatics","raw_type":null},{"id":"pmh:oai:pubmedcentral.nih.gov:10810331","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/10810331","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10810331/pdf/bbad508.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Brief Bioinform","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/bib/bbad508","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbad508","pdf_url":"https://academic.oup.com/bib/article-pdf/25/2/bbad508/56346921/bbad508.pdf","source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4391232231.pdf","grobid_xml":"https://content.openalex.org/works/W4391232231.grobid-xml"},"referenced_works_count":187,"referenced_works":["https://openalex.org/W1596062789","https://openalex.org/W1700061603","https://openalex.org/W1919257374","https://openalex.org/W1984068087","https://openalex.org/W2004136968","https://openalex.org/W2006921756","https://openalex.org/W2018838463","https://openalex.org/W2020966397","https://openalex.org/W2034197594","https://openalex.org/W2037331531","https://openalex.org/W2038473742","https://openalex.org/W2051978340","https://openalex.org/W2059145105","https://openalex.org/W2076359272","https://openalex.org/W2081823535","https://openalex.org/W2099328768","https://openalex.org/W2103441770","https://openalex.org/W2104549677","https://openalex.org/W2104595023","https://openalex.org/W2106578986","https://openalex.org/W2107903949","https://openalex.org/W2108234281","https://openalex.org/W2111350087","https://openalex.org/W2117608012","https://openalex.org/W2119180969","https://openalex.org/W2127230663","https://openalex.org/W2128505445","https://openalex.org/W2131271579","https://openalex.org/W2138138356","https://openalex.org/W2143238378","https://openalex.org/W2144420455","https://openalex.org/W2145191876","https://openalex.org/W2145809383","https://openalex.org/W2146005104","https://openalex.org/W2146973661","https://openalex.org/W2148105023","https://openalex.org/W2151313055","https://openalex.org/W2160995259","https://openalex.org/W2161815151","https://openalex.org/W2162924725","https://openalex.org/W2168133698","https://openalex.org/W2168909179","https://openalex.org/W2169730568","https://openalex.org/W2169767349","https://openalex.org/W2170551349","https://openalex.org/W2195303995","https://openalex.org/W2225287204","https://openalex.org/W2231968663","https://openalex.org/W2235737683","https://openalex.org/W2256016639","https://openalex.org/W2291918440","https://openalex.org/W2337209831","https://openalex.org/W2396849069","https://openalex.org/W2417483443","https://openalex.org/W2432815617","https://openalex.org/W2484239316","https://openalex.org/W2521967673","https://openalex.org/W2551190949","https://openalex.org/W2580314844","https://openalex.org/W2585129857","https://openalex.org/W2586994065","https://openalex.org/W2604639112","https://openalex.org/W2608516201","https://openalex.org/W2612091911","https://openalex.org/W2615979642","https://openalex.org/W2734891494","https://openalex.org/W2750053920","https://openalex.org/W2766383256","https://openalex.org/W2769420359","https://openalex.org/W2779975541","https://openalex.org/W2787126858","https://openalex.org/W2867868648","https://openalex.org/W2889664156","https://openalex.org/W2909021353","https://openalex.org/W2909194804","https://openalex.org/W2910619319","https://openalex.org/W2921879097","https://openalex.org/W2946895064","https://openalex.org/W2948893315","https://openalex.org/W2950122868","https://openalex.org/W2951874439","https://openalex.org/W2951912016","https://openalex.org/W2952222590","https://openalex.org/W2952450312","https://openalex.org/W2952870794","https://openalex.org/W2953328427","https://openalex.org/W2953352882","https://openalex.org/W2963186762","https://openalex.org/W2966929769","https://openalex.org/W2971836029","https://openalex.org/W2990344913","https://openalex.org/W2990871782","https://openalex.org/W2992482068","https://openalex.org/W2995057955","https://openalex.org/W2995984434","https://openalex.org/W3000879939","https://openalex.org/W3004617873","https://openalex.org/W3005228641","https://openalex.org/W3012203069","https://openalex.org/W3013142018","https://openalex.org/W3014232442","https://openalex.org/W3021090576","https://openalex.org/W3028710516","https://openalex.org/W3029661147","https://openalex.org/W3031073114","https://openalex.org/W3032034316","https://openalex.org/W3033870872","https://openalex.org/W3036487724","https://openalex.org/W3038072559","https://openalex.org/W3049591481","https://openalex.org/W3084459947","https://openalex.org/W3084951990","https://openalex.org/W3088483846","https://openalex.org/W3089079506","https://openalex.org/W3093528466","https://openalex.org/W3094167758","https://openalex.org/W3104285666","https://openalex.org/W3107322429","https://openalex.org/W3109853071","https://openalex.org/W3111061871","https://openalex.org/W3112095597","https://openalex.org/W3112181737","https://openalex.org/W3113659825","https://openalex.org/W3118986139","https://openalex.org/W3126160703","https://openalex.org/W3131815851","https://openalex.org/W3132356904","https://openalex.org/W3144647617","https://openalex.org/W3147574308","https://openalex.org/W3157830400","https://openalex.org/W3157844562","https://openalex.org/W3177732026","https://openalex.org/W3193877216","https://openalex.org/W3209441813","https://openalex.org/W3211999933","https://openalex.org/W3214890182","https://openalex.org/W3217533575","https://openalex.org/W4200597270","https://openalex.org/W4205247356","https://openalex.org/W4207084064","https://openalex.org/W4210887696","https://openalex.org/W4213226292","https://openalex.org/W4214613209","https://openalex.org/W4214821232","https://openalex.org/W4220734247","https://openalex.org/W4220937793","https://openalex.org/W4220999759","https://openalex.org/W4224014283","https://openalex.org/W4224278121","https://openalex.org/W4225379371","https://openalex.org/W4225399233","https://openalex.org/W4225740064","https://openalex.org/W4225764874","https://openalex.org/W4226151130","https://openalex.org/W4233358539","https://openalex.org/W4280614253","https://openalex.org/W4280618449","https://openalex.org/W4283210431","https://openalex.org/W4283574508","https://openalex.org/W4285796131","https://openalex.org/W4290861073","https://openalex.org/W4309643822","https://openalex.org/W4312327020","https://openalex.org/W4317209313","https://openalex.org/W4327549422","https://openalex.org/W4365513261","https://openalex.org/W4367556257","https://openalex.org/W4376133202","https://openalex.org/W4382363121","https://openalex.org/W4385446810","https://openalex.org/W4386033437","https://openalex.org/W4388947764","https://openalex.org/W6635813232","https://openalex.org/W6675468382","https://openalex.org/W6684463743","https://openalex.org/W6697434263","https://openalex.org/W6729295683","https://openalex.org/W6760415315","https://openalex.org/W6760473910","https://openalex.org/W6764305080","https://openalex.org/W6767917904","https://openalex.org/W6771040913","https://openalex.org/W6781637368","https://openalex.org/W6787500480","https://openalex.org/W6794621659","https://openalex.org/W6803403224","https://openalex.org/W6809491016"],"related_works":["https://openalex.org/W2093932542","https://openalex.org/W2043256480","https://openalex.org/W2172231381","https://openalex.org/W1983406990","https://openalex.org/W2106924416","https://openalex.org/W2772505697","https://openalex.org/W3083501552","https://openalex.org/W2400191746","https://openalex.org/W2484239316","https://openalex.org/W3024198590"],"abstract_inverted_index":{"Next-generation":[0],"sequencing":[1,16],"(NGS)":[2],"has":[3],"revolutionized":[4],"the":[5,25,50,55,62,78,83,86,101,106,111,117,132,143,154,171,178,188],"field":[6],"of":[7,45,65,85,100,108,135,145,158,162,174,190],"rare":[8],"disease":[9,192],"diagnostics.":[10,193],"Whole":[11],"exome":[12],"and":[13,43,53,73,120,148,160,165,181],"whole":[14],"genome":[15,88,114],"are":[17],"now":[18],"routinely":[19],"used":[20,40],"for":[21,41,139],"diagnostic":[22],"purposes;":[23],"however,":[24],"overall":[26],"diagnosis":[27],"rate":[28],"remains":[29],"lower":[30],"than":[31],"expected.":[32],"In":[33],"this":[34],"work,":[35],"we":[36,169],"review":[37],"current":[38],"approaches":[39],"calling":[42,95],"interpretation":[44],"germline":[46],"genetic":[47,146],"variants":[48,147,176],"in":[49,61,68,97,177],"human":[51,113,118],"genome,":[52,180],"discuss":[54,105],"most":[56,155],"important":[57,121],"challenges":[58],"that":[59,185],"persist":[60],"bioinformatic":[63],"analysis":[64,138],"NGS":[66,136],"data":[67,137],"medical":[69,140],"genetics.":[70],"We":[71,103,128,152],"describe":[72],"attempt":[74],"to":[75,110],"quantitatively":[76],"assess":[77],"remaining":[79],"problems,":[80],"such":[81,125],"as":[82],"quality":[84],"reference":[87],"sequence,":[89],"reproducible":[90],"coverage":[91],"biases,":[92],"or":[93,116],"variant":[94],"accuracy":[96],"complex":[98],"regions":[99],"genome.":[102],"also":[104],"prospects":[107],"switching":[109],"complete":[112],"assembly":[115],"pan-genome":[119],"caveats":[122],"associated":[123],"with":[124],"a":[126],"switch.":[127],"touch":[129],"on":[130],"arguably":[131],"hardest":[133],"problem":[134],"genomics,":[141],"namely,":[142],"annotation":[144,159],"their":[149],"subsequent":[150],"interpretation.":[151],"highlight":[153],"challenging":[156],"aspects":[157],"prioritization":[161],"both":[163],"coding":[164,179],"non-coding":[166],"variants.":[167],"Finally,":[168],"demonstrate":[170],"persistent":[172],"prevalence":[173],"pathogenic":[175],"outline":[182],"research":[183],"directions":[184],"may":[186],"enhance":[187],"efficiency":[189],"NGS-based":[191]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":7},{"year":2024,"cited_by_count":5}],"updated_date":"2026-03-27T05:58:40.876381","created_date":"2025-10-10T00:00:00"}
