Sentence examples for altering variant from inspiring English sources

Protein altering variant.

The most common protein altering variant (rs61748181) identified in the available data appears to have modest associations.

list of selected candidate genes, GO terms annotations, number of rare protein altering variants (PAV) contained in each gene, and gene-level P-values obtained from SKAT analysis.

Gene-based analysis was conducted on all protein altering variants (non-synonymous and splicing variants) with MAF <0.05 within these candidate genes, for a total of 2568 variants in 745 candidate genes (Additional file 1: Table S2).

We conducted genome-wide association tests for single SNPs, as well as gene-based tests focussing on a subset of rare protein altering variants (PAVs), which a priori, are more likely to impact on disease status.

Genotype data were used to carry out a genome-wide single marker case-control association analysis using common SNPs, and a gene-based association analysis focussing on rare protein altering variants in 745 candidate genes with a putative role in CH.

GOTM tests were also applied to gene lists identified by more than one variant within the following categories, a) DISC1 expression altering variants, b) NDE1 variants, c) all variants that associate with major mental illness, d) all variants from the DISC1 pathway.

This work is an important step in identifying phenotype altering variants in the pig: a production animal and medical model.

Furthermore, transcription factor affinity altering variants were predicted by comparison of position weight matrix scores between disease and reference alleles.

Despite the smaller target size, whole exome sequencing (WES) typically yields over 20,000 protein altering variants per sample [ 2, 3].

For example, an initial analysis might include all missense, splice or stop altering variants, excluding only synonymous and non-coding variants.