Sentences with phrase «noncoding variants»

RNA - seq analysis detected aberrant splicing in DONSON due to one of these noncoding variants, showing a causative role for DONSON disruption in MMS.

Huang Y - F, Gulko B, Siepel A. Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data.

The authors also leveraged our current knowledge of gene - phenotype relationships, and the comprehensive nature of WGS data, to identify three pathogenic noncoding variants.

It's a complicated picture, to be sure, but it suggests some specific areas in which noncoding variants are exerting a cis - regulatory effect on the LPA gene.

Rather than modify protein structure and function, these noncoding variants frequently impact regulatory elements and thereby alter the quantitative and spatiotemporal regulation of gene expression.

Candidate genes and functional noncoding variants identified in a canine model of obsessive - compulsive disorder.

J H S Tong and colleagues report a study that brings into sharp focus the likely relevance of noncoding variants for the genetic risk associated with Attention deficit hyperactivity disorder (ADHD).

Whole - genome sequencing identifies inherited noncoding variants in families affected by autism spectrum disorder.

Not exact matches

Assessing the influence of individual DNA base changes is particularly difficult in noncoding regions, so they instead identified bigger alterations, so - called structural variants, in which large sequences of DNA are inverted, duplicated, or deleted.

WGS is attractive here, because it enables you to look at noncoding and structural variants in linkage regions, rather than taking a gene - centric approach.

And let's face it, exome sequencing lets us conveniently avoid some of the most challenging aspects of human genomics, like detecting complex rearrangements (SVs) and interpreting noncoding regulatory variants.

Undoubtedly a significant proportion of important genetic variants lie in noncoding regions, where they exert a regulatory effect.

These included tier 1 (coding), tier 2 (conserved / regulatory), and tier 3 (unique noncoding) variants.

Ironically, another reason people like exome sequencing is because of the limited scope: it essentially doesn't interrogate the regions (noncoding) and variant types (SVs) that are more difficult to interpret.

342/12: 15 LARVA: An integrative framework for Large - scale Analysis of Recurrent Variants in noncoding Annotations.