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An Integrated Approach for Prioritizing Causal Variants in Whole Exome and Whole Genome Sequencing

One remaining challenge in the analysis of genetic data is the interpretation of genetic variation and the identification of the few phenotypically causal variants or disease variants among the few million of variants present in each sequenced genome. While various programs for assessing the functio...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Kircher, Martin, O'Roak, Brian, Cooper, Gregory M., Shendure, Jay, Witten, Daniela
Format: Artigo
Sprache:Inglês
Veröffentlicht: Association of Biomolecular Resource Facilities 2013
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3635426/
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