The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data.

ABSTRACT: Genetic testing, which is now a routine part of clinical practice and disease management protocols, is often based on the assessment of small panels of variants or genes. On the other hand, continuous improvements in the speed and per-base costs of sequencing have now made whole exome sequencing (WES) and whole genome sequencing (WGS) viable strategies for targeted or complete genetic analysis, respectively. Standard WGS/WES data analytical workflows generally rely on calling of sequence variants respect to the reference genome sequence. However, the reference genome sequence contains a large number of sites represented by rare alleles, by known pathogenic alleles and by alleles strongly associated to disease by GWAS. It's thus critical, for clinical applications of WGS and WES, to interpr

SUBMITTER: Ferrarini A 

PROVIDER: S-EPMC4492948 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature