Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.

Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.

While next generation sequencing (NGS) is a useful tool for the identification of genetic variants to aid diagnosis and support therapy decision, high sequencing costs have limited its application within routine clinical care, especially in economically depressed areas. To investigate the utility of...

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Bibliographic Details
Main Authors: Maria Delio, Kunjan Patel, Alex Maslov, Robert W Marion, Thomas V McDonald, Evan M Cadoff, Aaron Golden, John M Greally, Jan Vijg, Bernice Morrow, Cristina Montagna
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4516357?pdf=render

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