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Reducing the search space for causal genetic variants with VASP

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 concurr...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Bioinformatics
Hauptverfasser: Field, Matthew A., Cho, Vicky, Cook, Matthew C., Enders, Anselm, Vinuesa, Carola G., Whittle, Belinda, Andrews, T. Daniel, Goodnow, Chris C.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2015
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4495293/
https://ncbi.nlm.nih.gov/pubmed/25755272
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btv135
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