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Curr Protoc Hum Genet. 2013 Oct 18;79:Unit 9.24.. doi: 10.1002/0471142905.hg0924s79.

Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis.

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1
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin; The Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin; Department of Computer Science, University of Wisconsin, Milwaukee, Wisconsin.

Abstract

Over the last several years, next-generation sequencing (NGS) has transformed genomic research through substantial advances in technology and reduction in the cost of sequencing, and also in the systems required for analysis of these large volumes of data. This technology is now being used as a standard molecular diagnostic test under particular circumstances in some clinical settings. The advances in sequencing have come so rapidly that the major bottleneck in identification of causal variants is no longer the sequencing but rather the analysis and interpretation. Interpretation of genetic findings in a clinical setting is scarcely a new challenge, but the task is increasingly complex in clinical genome-wide sequencing given the dramatic increase in dataset size and complexity. This increase requires the development of novel or repositioned analysis tools, methodologies, and processes. This unit provides an overview of these items. Specific challenges related to implementation in a clinical setting are discussed.

KEYWORDS:

genome variant annotation; genome variant identification; genome variant interpretation; sequencing

PMID:
24510652
DOI:
10.1002/0471142905.hg0924s79
[Indexed for MEDLINE]
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