Sentence examples for determines variant from inspiring English sources

VEP determines variant effects (i.e. SNPs, insertions, deletions, CNVs, or structural variants) on genes, transcripts, and protein sequence, as well as regulatory regions.

A somatic cell mutation assay which determines variant erythrocytes lacking expression of an allelic form of the sialoglycoprotein, glycophorin A, was applied to samples from children before and after receiving potentially genotoxic therapy.

SWAN also uses soft-clip/split read remapping to supplement the likelihood analysis and determine variant boundaries.

The idea is that each contract will be a locally determined variant on a public-private partnership.

Likelihood ratios showed that dialect was a significant factor for determining variant distribution in both contexts [rounded: χ2(3) = 10.82, p = .01; unrounded: χ2(3) = 12.28, p < .01].01]

Since 2002, genogroup 2 genotype 4 noroviruses have been characterised to determine variant diversity based on by partial sequencing of the gene encoding the virus capsid.[21].[21]

As described below, this empirically determined variant calling approach improved the overall sensitivity to detect variants compared to the standard HCDiff variant detection algorithm, particularly at low coverage targets (Fig. 3A).

For example, ClinVar, HGMD and OMIM annotations are critical to determine variant pathogenicity.

Second, SNVs called according to the alignment results were compared to the actual generated variants, to determine variant calling performance.

Second, CG was highly precise in determining variant size, with the exception of overcalling by the read-depth approach.

The novelty of this work is to validate the right combination of aligners and variant callers against a comprehensive and experimentally determined variant dataset: NIST-GiaB.