Sentence examples for variants that lie from inspiring English sources

DeCODE Genetics has genotyped thousands of patients in its search for genetic variants that lie at the roots of common diseases.

These data show that results of GWAS are typically enriched for variants that lie within such non-coding functional units, sometimes in a cell-type-specific manner that is consistent with certain traits, suggesting that many of these regions could be causally linked to disease.

When this first step does not answer the clinical enquiry, more regions of the sequence can be examined, increasing the chance of finding variants that lie outside of the clinical enquiry.

Such monoallelic differences in expression are becoming increasingly apparent in the genetic etiology of cancer and could be valuable in deciphering the role of regulatory variants that lie within promoters and enhancers (Valle et al., 2008; Yan et al., 2002).

It was only after extending our definition of 'deleterious' to include 5′-UTR variants that lie in regions annotated by the ENCODE consortium (22) as transcription factor binding sites, that we uncovered the c.-540G>A variant.

An alternative possibility, therefore, is that multiple rare variants that lie distant from the common variant identified in GWAS occur stochastically and more frequently in association with the GWAS common variant.

In many cases, the causative variant is not known, and the observed haplotype serves as a proxy for assaying the unknown single variant that lies in or is linked to that haplotype.

Of the 16 that Denoeud detected and VNTRfinder did not, 1 represented a conflict in choice of homologous segments, 12 involved length variants that did not lie within the repeat array (often very poorly aligned regions) and 3 involved indels at the flank/repeat array boundary.

At the simplest level, whether two detrimental variants that affect 'the same gene' lie in cis or in trans may spell the difference between a healthy carrier and a diseased compound heterozygote.

For line M2, we found two potential causal variants in genes that lay 0.63 Mb apart within the candidate interval: a T-to-C transition in Inpp5e and a C-to-A transversion in Slc2a6.

Cas9 requires at least 12 perfect base pair matches within the guide-target sequence (Hsu et al., 2013) so it is highly unlikely that the URA3 and LYP1 guide sequences directed Cas9 to any of these potential protospacers that lie within variant sites.