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Article

Can whole-exome sequencing data be used for linkage analysis?

European journal of human genetics : EJHG - 1 Apr 2016

Gazal Steven, Gosset Simon, Verdura Edgard, Bergametti Françoise, Guey Stéphanie, Babron Marie-Claude, Tournier-Lasserve Elisabeth

Abstract excerpt

Whole-exome sequencing (WES) has become the strategy of choice to identify causal variants in monogenic disorders. However, the list of candidate variants can be quite large, including false positives generated by sequencing errors. To reduce this list of candidate variants to the most relevant ones, a cost-effective strategy would be to focus on regions of linkage identified through linkage analysis conducted...

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Share to Chromosome Mapping
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genotyping Techniques

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Share to Polymorphism, Single Nucleotide

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 26173971
DOI: 10.1038/ejhg.2015.143
PMCID: PMC4929867

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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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