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Article

Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders.

Bioinformatics (Oxford, England) - 15 Mar 2011

Rödelsperger Christian, Krawitz Peter, Bauer Sebastian, Hecht Jochen, Bigham Abigail W, Bamshad Michael, de Condor Birgit Jonske, Schweiger Michal R, Robinson Peter N

Abstract excerpt

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...

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PMID: 21278187
DOI: 10.1093/bioinformatics/btr022
PMCID: PMC3051326

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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