{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T15:01:29Z","timestamp":1770822089711,"version":"3.50.1"},"reference-count":41,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2016,10,2]],"date-time":"2016-10-02T00:00:00Z","timestamp":1475366400000},"content-version":"vor","delay-in-days":2074,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/2.0\/uk\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2011,3,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Motivation: Next-generation sequencing and exome-capture technologies are currently revolutionizing the way geneticists screen for disease-causing mutations in rare Mendelian disorders. However, the identification of causal mutations is challenging due to the sheer number of variants that are identified in individual exomes. Although databases such as dbSNP or HapMap can be used to reduce the plethora of candidate genes by filtering out common variants, the remaining set of genes still remains on the order of dozens.<\/jats:p>\n               <jats:p>Results: Our algorithm uses a non-homogeneous hidden Markov model that employs local recombination rates to identify chromosomal regions that are identical by descent (IBD = 2) in children of consanguineous or non-consanguineous parents solely based on genotype data of siblings derived from high-throughput sequencing platforms. Using simulated and real exome sequence data, we show that our algorithm is able to reduce the search space for the causative disease gene to a fifth or a tenth of the entire exome.<\/jats:p>\n               <jats:p>Availability: An R script and an accompanying tutorial are available at http:\/\/compbio.charite.de\/index.php\/ibd2.html.<\/jats:p>\n               <jats:p>Contact: \u00a0peter.robinson@charite.de<\/jats:p>","DOI":"10.1093\/bioinformatics\/btr022","type":"journal-article","created":{"date-parts":[[2011,1,29]],"date-time":"2011-01-29T02:52:41Z","timestamp":1296269561000},"page":"829-836","source":"Crossref","is-referenced-by-count":27,"title":["Identity-by-descent filtering of exome sequence data for disease\u2013gene identification in autosomal recessive disorders"],"prefix":"10.1093","volume":"27","author":[{"given":"Christian","family":"R\u00f6delsperger","sequence":"first","affiliation":[{"name":"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"},{"name":"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"},{"name":"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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Krawitz","sequence":"additional","affiliation":[{"name":"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"},{"name":"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"},{"name":"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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebastian","family":"Bauer","sequence":"additional","affiliation":[{"name":"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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jochen","family":"Hecht","sequence":"additional","affiliation":[{"name":"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"},{"name":"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"},{"name":"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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abigail W.","family":"Bigham","sequence":"additional","affiliation":[{"name":"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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Bamshad","sequence":"additional","affiliation":[{"name":"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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Birgit Jonske","family":"de Condor","sequence":"additional","affiliation":[{"name":"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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michal R.","family":"Schweiger","sequence":"additional","affiliation":[{"name":"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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter N.","family":"Robinson","sequence":"additional","affiliation":[{"name":"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"},{"name":"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"},{"name":"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"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2011,1,28]]},"reference":[{"key":"2023012511554586100_B1","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. 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