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Article

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.

Genome biology - 14 Sept 2011

Smith Katherine R, Bromhead Catherine J, Hildebrand Michael S, Shearer A Eliot, Lockhart Paul J, Najmabadi Hossein, Leventer Richard J, McGillivray George, Amor David J, Smith Richard J, Bahlo Melanie

Abstract excerpt

Many exome sequencing studies of Mendelian disorders fail to optimally exploit family information. Classical genetic linkage analysis is an effective method for eliminating a large fraction of the candidate causal variants discovered, even in small families that lack a unique linkage peak. We demonstrate that accurate genetic linkage mapping can be performed using SNP genotypes extracted from exome data, removing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21917141
DOI: 10.1186/gb-2011-12-9-r85
PMCID: PMC3308048

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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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