Article
Reducing the search space for causal genetic variants with VASP.
Bioinformatics (Oxford, England) - 15 Jul 2015
Field Matthew A, Cho Vicky, Cook Matthew C, Enders Anselm, Vinuesa Carola G, Whittle Belinda, Andrews T Daniel, Goodnow Chris C
Abstract excerpt
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...
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