{"id":"https://openalex.org/W2129642892","doi":"https://doi.org/10.1093/bioinformatics/btr022","title":"Identity-by-descent filtering of exome sequence data for disease\u2013gene identification in autosomal recessive disorders","display_name":"Identity-by-descent filtering of exome sequence data for disease\u2013gene identification in autosomal recessive disorders","publication_year":2011,"publication_date":"2011-01-28","ids":{"openalex":"https://openalex.org/W2129642892","doi":"https://doi.org/10.1093/bioinformatics/btr022","mag":"2129642892","pmid":"https://pubmed.ncbi.nlm.nih.gov/21278187"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btr022","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btr022","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/27/6/829/48866923/bioinformatics_27_6_829.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"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":"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/bioinformatics/article-pdf/27/6/829/48866923/bioinformatics_27_6_829.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5018353947","display_name":"Christian R\u00f6delsperger","orcid":"https://orcid.org/0000-0002-7905-9675"},"institutions":[{"id":"https://openalex.org/I4210142260","display_name":"Max Planck Institute for Molecular Genetics","ror":"https://ror.org/03ate3e03","country_code":"DE","type":"facility","lineage":["https://openalex.org/I149899117","https://openalex.org/I4210142260"]},{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Christian R\u00f6delsperger","raw_affiliation_strings":["1 Institute for Medical and Human Genetics, 2Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charit\u00e9-Universit\u00e4tsmedizin Berlin, Augustenburger Platz 1, Berlin, 3Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany and 4Department of Pediatrics, University of Washington, Seattle, WA 98195, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Institute for Medical and Human Genetics, 2Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charit\u00e9-Universit\u00e4tsmedizin Berlin, Augustenburger Platz 1, Berlin, 3Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany and 4Department of Pediatrics, University of Washington, Seattle, WA 98195, USA","institution_ids":["https://openalex.org/I4210142260","https://openalex.org/I7877124"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013713722","display_name":"Peter Krawitz","orcid":"https://orcid.org/0000-0002-3194-8625"},"institutions":[{"id":"https://openalex.org/I4210142260","display_name":"Max Planck Institute for Molecular Genetics","ror":"https://ror.org/03ate3e03","country_code":"DE","type":"facility","lineage":["https://openalex.org/I149899117","https://openalex.org/I4210142260"]},{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Peter Krawitz","raw_affiliation_strings":["1 Institute for Medical and Human Genetics, 2Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charit\u00e9-Universit\u00e4tsmedizin Berlin, Augustenburger Platz 1, Berlin, 3Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany and 4Department of Pediatrics, University of Washington, Seattle, WA 98195, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Institute for Medical and Human Genetics, 2Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charit\u00e9-Universit\u00e4tsmedizin Berlin, Augustenburger Platz 1, Berlin, 3Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany and 4Department of Pediatrics, University of Washington, Seattle, WA 98195, USA","institution_ids":["https://openalex.org/I4210142260","https://openalex.org/I7877124"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108107330","display_name":"Sebastian Bauer","orcid":null},"institutions":[{"id":"https://openalex.org/I4210142260","display_name":"Max Planck Institute for Molecular Genetics","ror":"https://ror.org/03ate3e03","country_code":"DE","type":"facility","lineage":["https://openalex.org/I149899117","https://openalex.org/I4210142260"]},{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Sebastian Bauer","raw_affiliation_strings":["1 Institute for Medical and Human Genetics, 2Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charit\u00e9-Universit\u00e4tsmedizin Berlin, Augustenburger Platz 1, Berlin, 3Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany and 4Department of Pediatrics, University of Washington, Seattle, WA 98195, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Institute for Medical and Human Genetics, 2Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charit\u00e9-Universit\u00e4tsmedizin Berlin, Augustenburger Platz 1, Berlin, 3Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany and 4Department of Pediatrics, University of Washington, Seattle, WA 98195, USA","institution_ids":["https://openalex.org/I4210142260","https://openalex.org/I7877124"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012871893","display_name":"Jochen Hecht","orcid":"https://orcid.org/0000-0002-6996-5279"},"institutions":[{"id":"https://openalex.org/I4210142260","display_name":"Max Planck Institute for Molecular Genetics","ror":"https://ror.org/03ate3e03","country_code":"DE","type":"facility","lineage":["https://openalex.org/I149899117","https://openalex.org/I4210142260"]},{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Jochen Hecht","raw_affiliation_strings":["1 Institute for Medical and Human Genetics, 2Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charit\u00e9-Universit\u00e4tsmedizin Berlin, Augustenburger Platz 1, Berlin, 3Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany and 4Department of Pediatrics, University of Washington, Seattle, WA 98195, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Institute for Medical and Human Genetics, 2Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charit\u00e9-Universit\u00e4tsmedizin Berlin, Augustenburger Platz 1, Berlin, 3Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany and 4Department of Pediatrics, University of Washington, Seattle, WA 98195, USA","institution_ids":["https://openalex.org/I4210142260","https://openalex.org/I7877124"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065079012","display_name":"Abigail W. Bigham","orcid":"https://orcid.org/0000-0002-0109-5844"},"institutions":[{"id":"https://openalex.org/I4210142260","display_name":"Max Planck Institute for Molecular Genetics","ror":"https://ror.org/03ate3e03","country_code":"DE","type":"facility","lineage":["https://openalex.org/I149899117","https://openalex.org/I4210142260"]},{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Abigail W. Bigham","raw_affiliation_strings":["1 Institute for Medical and Human Genetics, 2Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charit\u00e9-Universit\u00e4tsmedizin Berlin, Augustenburger Platz 1, Berlin, 3Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany and 4Department of Pediatrics, University of Washington, Seattle, WA 98195, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Institute for Medical and Human Genetics, 2Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charit\u00e9-Universit\u00e4tsmedizin Berlin, Augustenburger Platz 1, Berlin, 3Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany and 4Department of Pediatrics, University of Washington, Seattle, WA 98195, USA","institution_ids":["https://openalex.org/I4210142260","https://openalex.org/I7877124"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064174809","display_name":"Michael J. Bamshad","orcid":"https://orcid.org/0000-0002-9647-0861"},"institutions":[{"id":"https://openalex.org/I4210142260","display_name":"Max Planck Institute for Molecular Genetics","ror":"https://ror.org/03ate3e03","country_code":"DE","type":"facility","lineage":["https://openalex.org/I149899117","https://openalex.org/I4210142260"]},{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Michael Bamshad","raw_affiliation_strings":["1 Institute for Medical and Human Genetics, 2Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charit\u00e9-Universit\u00e4tsmedizin Berlin, Augustenburger Platz 1, Berlin, 3Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany and 4Department of Pediatrics, University of Washington, Seattle, WA 98195, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Institute for Medical and Human Genetics, 2Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charit\u00e9-Universit\u00e4tsmedizin Berlin, Augustenburger Platz 1, Berlin, 3Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany and 4Department of Pediatrics, University of Washington, Seattle, WA 98195, USA","institution_ids":["https://openalex.org/I4210142260","https://openalex.org/I7877124"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060987159","display_name":"Birgit Jonske de Condor","orcid":null},"institutions":[{"id":"https://openalex.org/I4210142260","display_name":"Max Planck Institute for Molecular Genetics","ror":"https://ror.org/03ate3e03","country_code":"DE","type":"facility","lineage":["https://openalex.org/I149899117","https://openalex.org/I4210142260"]},{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Birgit Jonske de Condor","raw_affiliation_strings":["1 Institute for Medical and Human Genetics, 2Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charit\u00e9-Universit\u00e4tsmedizin Berlin, Augustenburger Platz 1, Berlin, 3Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany and 4Department of Pediatrics, University of Washington, Seattle, WA 98195, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Institute for Medical and Human Genetics, 2Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charit\u00e9-Universit\u00e4tsmedizin Berlin, Augustenburger Platz 1, Berlin, 3Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany and 4Department of Pediatrics, University of Washington, Seattle, WA 98195, USA","institution_ids":["https://openalex.org/I4210142260","https://openalex.org/I7877124"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071599656","display_name":"Michal R. Schweiger","orcid":"https://orcid.org/0000-0002-4672-0623"},"institutions":[{"id":"https://openalex.org/I4210142260","display_name":"Max Planck Institute for Molecular Genetics","ror":"https://ror.org/03ate3e03","country_code":"DE","type":"facility","lineage":["https://openalex.org/I149899117","https://openalex.org/I4210142260"]},{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Michal R. Schweiger","raw_affiliation_strings":["1 Institute for Medical and Human Genetics, 2Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charit\u00e9-Universit\u00e4tsmedizin Berlin, Augustenburger Platz 1, Berlin, 3Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany and 4Department of Pediatrics, University of Washington, Seattle, WA 98195, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Institute for Medical and Human Genetics, 2Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charit\u00e9-Universit\u00e4tsmedizin Berlin, Augustenburger Platz 1, Berlin, 3Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany and 4Department of Pediatrics, University of Washington, Seattle, WA 98195, USA","institution_ids":["https://openalex.org/I4210142260","https://openalex.org/I7877124"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5033225381","display_name":"Peter N. Robinson","orcid":"https://orcid.org/0000-0002-0736-9199"},"institutions":[{"id":"https://openalex.org/I4210142260","display_name":"Max Planck Institute for Molecular Genetics","ror":"https://ror.org/03ate3e03","country_code":"DE","type":"facility","lineage":["https://openalex.org/I149899117","https://openalex.org/I4210142260"]},{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Peter N. Robinson","raw_affiliation_strings":["1 Institute for Medical and Human Genetics, 2Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charit\u00e9-Universit\u00e4tsmedizin Berlin, Augustenburger Platz 1, Berlin, 3Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany and 4Department of Pediatrics, University of Washington, Seattle, WA 98195, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Institute for Medical and Human Genetics, 2Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charit\u00e9-Universit\u00e4tsmedizin Berlin, Augustenburger Platz 1, Berlin, 3Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany and 4Department of Pediatrics, University of Washington, Seattle, WA 98195, USA","institution_ids":["https://openalex.org/I4210142260","https://openalex.org/I7877124"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":9,"corresponding_author_ids":["https://openalex.org/A5033225381"],"corresponding_institution_ids":["https://openalex.org/I4210142260","https://openalex.org/I7877124"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":{"value":3618,"currency":"USD","value_usd":3618},"fwci":4.7531,"has_fulltext":true,"cited_by_count":31,"citation_normalized_percentile":{"value":0.95279738,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"27","issue":"6","first_page":"829","last_page":"836"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.8682000041007996,"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":0.8682000041007996,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.060499999672174454,"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":0.015599999576807022,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/exome-sequencing","display_name":"Exome sequencing","score":0.7224434614181519},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.6727347373962402},{"id":"https://openalex.org/keywords/international-hapmap-project","display_name":"International HapMap Project","score":0.6696667671203613},{"id":"https://openalex.org/keywords/exome","display_name":"Exome","score":0.6494711637496948},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.4950484335422516},{"id":"https://openalex.org/keywords/identification","display_name":"Identification (biology)","score":0.4733051359653473},{"id":"https://openalex.org/keywords/dbsnp","display_name":"dbSNP","score":0.45281049609184265},{"id":"https://openalex.org/keywords/identity-by-descent","display_name":"Identity by descent","score":0.4509047567844391},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.3893374800682068},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.36819934844970703},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.35872334241867065},{"id":"https://openalex.org/keywords/haplotype","display_name":"Haplotype","score":0.267214298248291},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.2340809404850006}],"concepts":[{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.7224434614181519},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6727347373962402},{"id":"https://openalex.org/C177580304","wikidata":"https://www.wikidata.org/wiki/Q1147298","display_name":"International HapMap Project","level":5,"score":0.6696667671203613},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.6494711637496948},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4950484335422516},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.4733051359653473},{"id":"https://openalex.org/C35794970","wikidata":"https://www.wikidata.org/wiki/Q5243761","display_name":"dbSNP","level":5,"score":0.45281049609184265},{"id":"https://openalex.org/C178221405","wikidata":"https://www.wikidata.org/wiki/Q5988338","display_name":"Identity by descent","level":5,"score":0.4509047567844391},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3893374800682068},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.36819934844970703},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.35872334241867065},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.267214298248291},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.2340809404850006},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.0},{"id":"https://openalex.org/C59822182","wikidata":"https://www.wikidata.org/wiki/Q441","display_name":"Botany","level":1,"score":0.0}],"mesh":[{"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":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"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":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","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":"D008390","descriptor_name":"Markov Chains","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008390","descriptor_name":"Markov Chains","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008390","descriptor_name":"Markov Chains","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008390","descriptor_name":"Markov Chains","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008957","descriptor_name":"Models, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008957","descriptor_name":"Models, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008957","descriptor_name":"Models, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008957","descriptor_name":"Models, Genetic","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":"D009154","descriptor_name":"Mutation","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":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":"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":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","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":"Q000235","qualifier_name":"genetics","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":"D040582","descriptor_name":"Inheritance Patterns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1093/bioinformatics/btr022","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btr022","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/27/6/829/48866923/bioinformatics_27_6_829.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"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":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:21278187","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21278187","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":"Bioinformatics (Oxford, England)","raw_type":null},{"id":"pmh:oai:pubmedcentral.nih.gov:3051326","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3051326","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics","raw_type":"Text"},{"id":"pmh:oai:pure.mpg.de:item_1583323","is_oa":false,"landing_page_url":"http://hdl.handle.net/11858/00-001M-0000-0010-781E-E","pdf_url":null,"source":{"id":"https://openalex.org/S4306400654","display_name":"MPG.PuRe (Max Planck Society)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I149899117","host_organization_name":"Max Planck Society","host_organization_lineage":["https://openalex.org/I149899117"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pure.mpg.de:item_1583399","is_oa":false,"landing_page_url":"http://hdl.handle.net/11858/00-001M-0000-0010-78B4-B","pdf_url":null,"source":{"id":"https://openalex.org/S4306400654","display_name":"MPG.PuRe (Max Planck Society)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I149899117","host_organization_name":"Max Planck Society","host_organization_lineage":["https://openalex.org/I149899117"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btr022","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btr022","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/27/6/829/48866923/bioinformatics_27_6_829.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"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":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G8320450649","display_name":null,"funder_award_id":"0313911","funder_id":"https://openalex.org/F4320321114","funder_display_name":"Bundesministerium f\u00fcr Bildung und Forschung"}],"funders":[{"id":"https://openalex.org/F4320321114","display_name":"Bundesministerium f\u00fcr Bildung und Forschung","ror":"https://ror.org/04pz7b180"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2129642892.pdf","grobid_xml":"https://content.openalex.org/works/W2129642892.grobid-xml"},"referenced_works_count":44,"referenced_works":["https://openalex.org/W1803375514","https://openalex.org/W1973878786","https://openalex.org/W1980740976","https://openalex.org/W1985849948","https://openalex.org/W1988276998","https://openalex.org/W1991133427","https://openalex.org/W1991944680","https://openalex.org/W1996361222","https://openalex.org/W1998158007","https://openalex.org/W1999982116","https://openalex.org/W2000766568","https://openalex.org/W2022885175","https://openalex.org/W2028431091","https://openalex.org/W2036210716","https://openalex.org/W2039783092","https://openalex.org/W2059145105","https://openalex.org/W2071126398","https://openalex.org/W2071965243","https://openalex.org/W2076357933","https://openalex.org/W2097209446","https://openalex.org/W2101735289","https://openalex.org/W2104743461","https://openalex.org/W2105071916","https://openalex.org/W2108487922","https://openalex.org/W2109789752","https://openalex.org/W2110747516","https://openalex.org/W2117557660","https://openalex.org/W2119220491","https://openalex.org/W2119279196","https://openalex.org/W2131117544","https://openalex.org/W2131579290","https://openalex.org/W2132730277","https://openalex.org/W2136078375","https://openalex.org/W2142403957","https://openalex.org/W2152745352","https://openalex.org/W2155445544","https://openalex.org/W2157775517","https://openalex.org/W2160938004","https://openalex.org/W2168142506","https://openalex.org/W2612812586","https://openalex.org/W3214380909","https://openalex.org/W4229794866","https://openalex.org/W4245668478","https://openalex.org/W6638186065"],"related_works":["https://openalex.org/W1576081620","https://openalex.org/W2017507057","https://openalex.org/W3135778578","https://openalex.org/W2943793767","https://openalex.org/W2158502588","https://openalex.org/W2135949653","https://openalex.org/W2942616177","https://openalex.org/W2093932542","https://openalex.org/W2018130645","https://openalex.org/W1174898457"],"abstract_inverted_index":{"MOTIVATION:":[0],"Next-generation":[1],"sequencing":[2,118],"and":[3,122,158],"exome-capture":[4],"technologies":[5],"are":[6,36,94,162],"currently":[7],"revolutionizing":[8],"the":[9,21,30,53,63,71,136,140,151],"way":[10],"geneticists":[11],"screen":[12],"for":[13,139],"disease-causing":[14],"mutations":[15,25],"in":[16,38,101],"rare":[17],"Mendelian":[18],"disorders.":[19],"However,":[20],"identification":[22],"of":[23,33,55,66,73,103,113,150],"causal":[24],"is":[26,132],"challenging":[27],"due":[28],"to":[29,51,89,134,144],"sheer":[31],"number":[32],"variants":[34],"that":[35,84,93,129],"identified":[37],"individual":[39],"exomes.":[40],"Although":[41],"databases":[42],"such":[43],"as":[44],"dbSNP":[45],"or":[46,105,147],"HapMap":[47],"can":[48],"be":[49],"used":[50],"reduce":[52,135],"plethora":[54],"candidate":[56],"genes":[57,67],"by":[58,96],"filtering":[59],"out":[60],"common":[61],"variants,":[62],"remaining":[64],"set":[65],"still":[68],"remains":[69],"on":[70,110],"order":[72],"dozens.":[74],"RESULTS:":[75],"Our":[76],"algorithm":[77,131],"uses":[78],"a":[79,145,148],"non-homogeneous":[80],"hidden":[81],"Markov":[82],"model":[83],"employs":[85],"local":[86],"recombination":[87],"rates":[88],"identify":[90],"chromosomal":[91],"regions":[92],"identical":[95],"descent":[97],"(IBD":[98],"=":[99],"2)":[100],"children":[102],"consanguineous":[104],"non-consanguineous":[106],"parents":[107],"solely":[108],"based":[109],"genotype":[111],"data":[112],"siblings":[114],"derived":[115],"from":[116],"high-throughput":[117],"platforms.":[119],"Using":[120],"simulated":[121],"real":[123],"exome":[124],"sequence":[125],"data,":[126],"we":[127],"show":[128],"our":[130],"able":[133],"search":[137],"space":[138],"causative":[141],"disease":[142],"gene":[143],"fifth":[146],"tenth":[149],"entire":[152],"exome.":[153],"AVAILABILITY:":[154],"An":[155],"R":[156],"script":[157],"an":[159],"accompanying":[160],"tutorial":[161],"available":[163],"at":[164],"http://compbio.charite.de/index.php/ibd2.html.":[165]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":6},{"year":2013,"cited_by_count":8},{"year":2012,"cited_by_count":7}],"updated_date":"2026-06-23T06:36:01.041984","created_date":"2025-10-10T00:00:00"}