{"id":"https://openalex.org/W3024000346","doi":"https://doi.org/10.1093/bib/bbaa077","title":"PedMiner: a tool for linkage analysis-based identification of disease-associated variants using family based whole-exome sequencing data","display_name":"PedMiner: a tool for linkage analysis-based identification of disease-associated variants using family based whole-exome sequencing data","publication_year":2020,"publication_date":"2020-04-17","ids":{"openalex":"https://openalex.org/W3024000346","doi":"https://doi.org/10.1093/bib/bbaa077","mag":"3024000346","pmid":"https://pubmed.ncbi.nlm.nih.gov/32393981"},"language":"en","primary_location":{"id":"doi:10.1093/bib/bbaa077","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbaa077","pdf_url":"https://academic.oup.com/bib/advance-article-pdf/doi/10.1093/bib/bbaa077/33200775/bbaa077.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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","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/advance-article-pdf/doi/10.1093/bib/bbaa077/33200775/bbaa077.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5059341029","display_name":"Jianteng Zhou","orcid":"https://orcid.org/0000-0002-1127-749X"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jianteng Zhou","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047194730","display_name":"Jianing Gao","orcid":"https://orcid.org/0000-0001-6599-2133"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jianing Gao","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100765107","display_name":"Huan Zhang","orcid":"https://orcid.org/0000-0002-6190-296X"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Huan Zhang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101825547","display_name":"Daren Zhao","orcid":"https://orcid.org/0000-0002-1281-1295"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Daren Zhao","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100359739","display_name":"Ao Li","orcid":"https://orcid.org/0000-0002-7130-2386"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ao Li","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042634147","display_name":"Furhan Iqbal","orcid":"https://orcid.org/0000-0003-4996-0152"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Furhan Iqbal","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005929167","display_name":"Qinghua Shi","orcid":"https://orcid.org/0000-0003-1180-9799"},"institutions":[{"id":"https://openalex.org/I126520041","display_name":"University of Science and Technology of China","ror":"https://ror.org/04c4dkn09","country_code":"CN","type":"education","lineage":["https://openalex.org/I126520041","https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210103894","display_name":"Hefei National Center for Physical Sciences at Nanoscale","ror":"https://ror.org/01jeedh73","country_code":"CN","type":"facility","lineage":["https://openalex.org/I126520041","https://openalex.org/I19820366","https://openalex.org/I4210103894"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Qinghua Shi","raw_affiliation_strings":["Qinghua Shi, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at the Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, University of Science and Technology of China, 443 Huangshan Road, Shushan District, Hefei 230027, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Qinghua Shi, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at the Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, University of Science and Technology of China, 443 Huangshan Road, Shushan District, Hefei 230027, China","institution_ids":["https://openalex.org/I126520041","https://openalex.org/I4210103894"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5100719572","display_name":"Yuanwei Zhang","orcid":"https://orcid.org/0000-0002-2814-8061"},"institutions":[{"id":"https://openalex.org/I126520041","display_name":"University of Science and Technology of China","ror":"https://ror.org/04c4dkn09","country_code":"CN","type":"education","lineage":["https://openalex.org/I126520041","https://openalex.org/I19820366"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Yuanwei Zhang","raw_affiliation_strings":["Corresponding author: Yuanwei Zhang, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at the Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, University of Science and Technology of China, 443 Huangshan Road, Shushan District, Hefei 230027, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Corresponding author: Yuanwei Zhang, The First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at the Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, University of Science and Technology of China, 443 Huangshan Road, Shushan District, Hefei 230027, China","institution_ids":["https://openalex.org/I126520041"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5005929167","https://openalex.org/A5100719572"],"corresponding_institution_ids":["https://openalex.org/I126520041","https://openalex.org/I4210103894"],"apc_list":{"value":4011,"currency":"USD","value_usd":4011},"apc_paid":{"value":4011,"currency":"USD","value_usd":4011},"fwci":1.4099,"has_fulltext":false,"cited_by_count":13,"citation_normalized_percentile":{"value":0.82118556,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":94,"max":97},"biblio":{"volume":"22","issue":"3","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/T11482","display_name":"RNA modifications and cancer","score":0.9962000250816345,"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/T10269","display_name":"Epigenetics and DNA Methylation","score":0.9944000244140625,"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/exome-sequencing","display_name":"Exome sequencing","score":0.7634925842285156},{"id":"https://openalex.org/keywords/identification","display_name":"Identification (biology)","score":0.683042585849762},{"id":"https://openalex.org/keywords/linkage","display_name":"Linkage (software)","score":0.6797338724136353},{"id":"https://openalex.org/keywords/exome","display_name":"Exome","score":0.6197360754013062},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5608618259429932},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.40850281715393066},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.4022065997123718},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.312372088432312},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.16908621788024902},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.13168206810951233}],"concepts":[{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.7634925842285156},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.683042585849762},{"id":"https://openalex.org/C31266012","wikidata":"https://www.wikidata.org/wiki/Q6554340","display_name":"Linkage (software)","level":3,"score":0.6797338724136353},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.6197360754013062},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5608618259429932},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.40850281715393066},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4022065997123718},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.312372088432312},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.16908621788024902},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.13168206810951233},{"id":"https://openalex.org/C59822182","wikidata":"https://www.wikidata.org/wiki/Q441","display_name":"Botany","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005190","descriptor_name":"Family","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005190","descriptor_name":"Family","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005190","descriptor_name":"Family","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"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":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1093/bib/bbaa077","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbaa077","pdf_url":"https://academic.oup.com/bib/advance-article-pdf/doi/10.1093/bib/bbaa077/33200775/bbaa077.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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},{"id":"pmid:32393981","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32393981","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:8138824","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/8138824","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Brief Bioinform","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/bib/bbaa077","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbaa077","pdf_url":"https://academic.oup.com/bib/advance-article-pdf/doi/10.1093/bib/bbaa077/33200775/bbaa077.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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","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/G153152769","display_name":null,"funder_award_id":"XDB19010200","funder_id":"https://openalex.org/F4320321133","funder_display_name":"Chinese Academy of Sciences"},{"id":"https://openalex.org/G2964472905","display_name":null,"funder_award_id":"31630050","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"},{"id":"https://openalex.org/G5746904418","display_name":null,"funder_award_id":"31771668","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"},{"id":"https://openalex.org/G7259780143","display_name":null,"funder_award_id":"31890780","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"}],"funders":[{"id":"https://openalex.org/F4320321001","display_name":"National Natural Science Foundation of China","ror":"https://ror.org/01h0zpd94"},{"id":"https://openalex.org/F4320321133","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35"}],"has_content":{"grobid_xml":false,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3024000346.pdf"},"referenced_works_count":46,"referenced_works":["https://openalex.org/W1504153979","https://openalex.org/W1527972786","https://openalex.org/W1549470101","https://openalex.org/W1765369324","https://openalex.org/W1969697265","https://openalex.org/W1980171391","https://openalex.org/W1991311566","https://openalex.org/W1994917548","https://openalex.org/W1998158007","https://openalex.org/W2004798376","https://openalex.org/W2015478374","https://openalex.org/W2015982595","https://openalex.org/W2017428806","https://openalex.org/W2017952818","https://openalex.org/W2018600945","https://openalex.org/W2025412630","https://openalex.org/W2046640269","https://openalex.org/W2059145105","https://openalex.org/W2076357933","https://openalex.org/W2086059732","https://openalex.org/W2105306382","https://openalex.org/W2107489150","https://openalex.org/W2107871825","https://openalex.org/W2109277355","https://openalex.org/W2114408926","https://openalex.org/W2114999674","https://openalex.org/W2115059509","https://openalex.org/W2117060782","https://openalex.org/W2119180969","https://openalex.org/W2143238378","https://openalex.org/W2147387551","https://openalex.org/W2161633633","https://openalex.org/W2165952534","https://openalex.org/W2171058109","https://openalex.org/W2171777347","https://openalex.org/W2256016639","https://openalex.org/W2279671364","https://openalex.org/W2396849069","https://openalex.org/W2562330244","https://openalex.org/W2571526188","https://openalex.org/W2808362706","https://openalex.org/W2885727518","https://openalex.org/W2949149057","https://openalex.org/W6631591736","https://openalex.org/W6632816856","https://openalex.org/W6676126879"],"related_works":["https://openalex.org/W2093932542","https://openalex.org/W4402567428","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"],"abstract_inverted_index":{"With":[0],"the":[1,7,17,34,78,102],"advances":[2],"of":[3,9,22,77,85],"next-generation":[4],"sequencing":[5,55],"technology,":[6],"field":[8],"disease":[10],"research":[11],"has":[12],"been":[13],"revolutionized.":[14],"However,":[15],"pinpointing":[16],"disease-causing":[18],"variants":[19,24,50,86],"from":[20,51],"millions":[21],"revealed":[23],"is":[25],"still":[26],"a":[27,42],"tough":[28],"task.":[29],"Here,":[30],"we":[31],"have":[32],"reviewed":[33],"existing":[35],"linkage":[36,59,63],"analysis":[37],"tools":[38],"and":[39,67,87,95],"presented":[40],"PedMiner,":[41],"web-based":[43],"application":[44,97],"designed":[45],"to":[46],"narrow":[47],"down":[48],"candidate":[49],"family":[52,111],"based":[53,112],"whole-exome":[54],"(WES)":[56],"data":[57],"through":[58],"analysis.":[60],"PedMiner":[61],"integrates":[62],"analysis,":[64],"variant":[65],"annotation":[66,84],"prioritization":[68],"in":[69],"one":[70],"automated":[71],"pipeline.":[72],"It":[73],"provides":[74],"graphical":[75],"visualization":[76],"linked":[79,91],"regions":[80],"along":[81],"with":[82],"comprehensive":[83,96],"genes":[88],"within":[89],"these":[90],"regions.":[92],"This":[93],"efficient":[94],"will":[98],"be":[99],"helpful":[100],"for":[101],"scientific":[103],"community":[104],"working":[105],"on":[106],"Mendelian":[107],"inherited":[108],"disorders":[109],"using":[110],"WES":[113],"data.":[114]},"counts_by_year":[{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":2}],"updated_date":"2026-06-16T07:32:37.131356","created_date":"2025-10-10T00:00:00"}
