Sentence examples for by exome sequencing technology from inspiring English sources

We hypothesized that Affymetrix's SNP selection criteria selected SNPs that are more easily sequenced by exome sequencing technology.

New exome sequencing technology has identified novel rare variants and has found that sporadic cases of ASD are enriched for disruptive de novo mutations37.

The diffusion of exome sequencing technology provided evidence for the role of rare coding variants in the aetiology of several complex diseases, and a cost effective alternative to exome sequencing is provided by the recent development of "exome" genotyping arrays, which were created to genotype rare coding variants identified by exome sequencing of thousands of individuals [28].

Whole exome sequencing technology is emerging as an effective way of capturing a patient's functional rare variants.

Most exome sequencing technologies rely on a hybridization step to enrich for DNA fragments arising from specific genomic targets.

The ARID1A mutations were determined primarily by exome sequencing using next generation technologies and these results were previously described by our group [ 12].

MPS of targeted regions defined by linkage analysis is already being replaced by exome sequencing, with whole genome sequencing approaching a reality as costs fall with the advent of more efficient sequencing technologies.

Variants discovered by exome sequencing or whole genome re-sequencing experiments should be considered putative until confirmed by an independent assay or technology.

Koboldt, D. C. et al. VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing.

These events are not typically captured by exome sequencing.

Whole exome sequencing (WES) technology has facilitated the discovery of pathogenic mutations in several other GPI biosynthesis genes.