UNASSIGNED: 22 Background: Next-generation DNA sequencing (NGS) is the universal nucleic acid assay technology, with the capability to replace nearly all existing DNA assay technologies. In most cases it is more affordable, more accurate, more flexible, and less subject to @entity1 error than prior assay technologies such as capillary electrophoresis or genotyping arrays. In the last year especially, NGS utilization in the clinic has increased. The use of NGS to detect single nucleotide polymorphisms (SNPs) and short insertions/deletions (indels) is well established. However, primarily due to novelty, NGS for has not yet often been used in the clinic for the detection of larger copy number variants (CNVs). Instead, supplementary technologies such as multiplex ligation-probe amplification (MLPA) and quantitative PCR (qPCR) have been used to probe large CNVs. METHODS: Counsyl's Family Prep and Inherited @entity5 Screens use NGS for detecting SNPs and indels, and also @entity471 analysis in the genes of interest. Here we present the technical details of the platform and our validation results showing that @entity471 analysis by NGS meets or exceeds the performance of such analysis by MLPA or endpoint TaqMan. Only two discordant @entity471 genotypes were found out of 20,086 calls; both discordances are errors in the control assay, and are attributable to technical limitations. RESULTS: See Table. CONCLUSIONS: CNVs account for a significant proportion of @entity5345 and @entity2674 associated @entity5 risk. Our NGS methodology achieves analytical performance previously obtained only by multiple assays, decreasing testing costs and thereby potentially widening access. [Table: see text].

Next-generation sequencing for inherited XXXX risk assessment: Under the hood at Counsyl.

@entity1 :: ('9606', 'Species') :: ['human'] @entity5345 :: ('672', 'Gene') :: ['BRCA1'] @entity5 :: ('MESH:D009369', 'Disease') :: ['cancer', 'Cancer'] @entity2674 :: ('675', 'Gene') :: ['BRCA2'] @entity471 :: ('12143', 'Species') :: ['CNV']
@entity5 :: (MESH:D009369,Disease) :: ['cancer']
