Significats de deleterious variants en anglès

Genotype grouping was performed based on the presence of deleterious variants.

No likely deleterious variants were identified; notably no mutations that were predicted to truncate the protein were identified.

We identified a significantly higher frequency of rare deleterious variants in KCNA5 in the patients than in controls.

However, these approaches say little about the tissues in which the effects of deleterious variants will be most meaningful.

Moreover, this is the first time that XRCC3 deleterious variants have been identified in breast and ovarian cancer cases.

The recent introduction of genome variation analyzing in silico tools have the capability to identify the deleterious variants in an efficient manner.

Predicted deleterious variants were more enriched in ROH regions than predicted non-deleterious variants, which is consistent with observations in the human genome.

The aim of this study was to estimate the contribution of deleterious variants in the five RAD51 paralogs to breast and ovarian cancers.

Analysis of the MD trajectories indicated that predicted deleterious variants alter the structural behavior of BRCA2-PALB2 and BRCA2-RAD51 protein complexes.

Using burden tests for each gene that included rare missense or predicted deleterious variants, we identified 29 genes showing promising associations with breast cancer risk.

We also observe that long tracts of homozygous genotypes (runs of homozygosity) are proportionally more enriched in deleterious variants than the rest of the genome.

In the remaining 15 families, we identified 20 rare and novel potentially deleterious variants in 19 genes, six of which were truncating mutations.

Based on variants in the ExAC database, we estimated that approximately 1 in 248 individuals are carriers of moderately or severely deleterious variants in GPT2.