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Reducing the search space for causal genetic variants with VASP

Field, Matthew; Cho, Eun; Cook, Matthew; Enders, Anselm; Garcia De Vinuesa, Maria Carola; Whittle, Belinda; Andrews, Dan; Goodnow, Christopher

Description

Motivation: Increasingly, cost-effective high-throughput DNA sequencing technologies are being utilized to sequence human pedigrees to elucidate the genetic cause of a wide variety of human diseases. While numerous tools exist for variant prioritization within a single genome, the ability to concurrently analyze variants within pedigrees remains a challenge, especially should there be no prior indication of the underlying genetic cause of the disease. Here, we present a tool, variant analysis...[Show more]

CollectionsANU Research Publications
Date published: 2015
Type: Journal article
URI: http://hdl.handle.net/1885/52343
Source: Bioinformatics
DOI: 10.1093/bioinformatics/btv135

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