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Article

Exome sequencing analysis: a guide to disease variant detection.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2013

Isakov Ofer, Perrone Marie, Shomron Noam

Abstract excerpt

Whole exome sequencing presents a powerful tool to study rare genetic disorders. The most challenging part of using exome sequencing for the purpose of disease-causing variant detection is analyzing, interpreting, and filtering the large number of detected variants. In this chapter we provide a comprehensive description of the various steps required for such an analysis. We address strategies in selecting samples...

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PMID: 23872973
DOI: 10.1007/978-1-62703-514-9_8

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