Sentence examples for variants and identify from inspiring English sources

We describe on-going and future gene-mapping studies that utilise next generation sequencing technology to pinpoint causal variants and identify rare genetic variation underlying Crohn's disease risk.

Understanding which events and processes induce variations of the classical imaging presentations and knowing to distinguish normal variants and identify signs of an aggressive process are the key to a correct diagnostic algorithm.

With a high resolution and sensitivity, the mRNA-Seq can provide detailed information on transcriptional structure of genes such as the precise location of transcription boundaries to a single-base resolution, reveal rare transcripts or variants, and identify splicing isoforms of known genes (Wang et al. 2009a).

This allowed alignment of PCR products against PAQR5b to establish exon composition and distinguish between splice variants and identify missing exons.

Further research is needed to understand the role of genetic variants and identify modifiers of disease that may explain why, for example, siblings with the same NPHS2 mutations have variability in the onset and presentation of SRNS [ 12, 20].

The recent success of these approaches to both characterize newly discovered AD risk variants and identify novel risk variants suggests that the use of endophenotypes is an important part of the ongoing effort to solve the genetic architecture of AD.

We searched for listed leptin variants and identified 36 missense, 1 in-frame deletion, and 3 loss-of-function variants.

Whole genome sequencing data are also included for predicting pathway activity associated variants and identifying metabolic engineering targets.

Furthermore, VASP uses parental allele segregation patterns to determine phasing of variants and identifies genomic blocks common to affected pedigree individuals.

We consider the latest approaches for evaluating enhancer variants and identifying their gene targets, and highlight successful cases in which risk variants have been shown to alter gene expression by disrupting enhancer function.

To refine this region, we tested additional variants and identified a small insertion/deletion variant near ZNF389 that showed consistent association with proviral concentration in three animal sets (P <  0.05).