Article
Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.
PloS one - 1 Jan 2015
Delio Maria, Patel Kunjan, Maslov Alex, Marion Robert W, McDonald Thomas V, Cadoff Evan M, Golden Aaron, Greally John M, Vijg Jan, Morrow Bernice, Montagna Cristina
Abstract excerpt
BACKGROUND: 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 a multi-disease NGS based genetic test, we designed a custom sequencing assay targeting over thirty...
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