Significados de functional variant en inglés

Texomer results in substantially improved accuracy in sample categorization and functional variant prioritization.

A fifth haplotype harbours the functional variant and is only found in East Asians.

The C677T polymorphism is the most common functional variant, leading to a reduction in enzyme activity.

For our primary analysis, we focused on functional variant rs3173615, and employed a recessive genotypic model.

In addition, this study and others previously reported strongly suggest that this functional variant may be shared with other immune-mediated diseases as CD and CLL.

This newly described functional variant therefore does not provide a straightforward physiological explanation for previously reported genetic associations with DRD2*A1 in European-American subjects.

Among the ADH4 markers that appear to predispose to certain personality traits, the functional variant rs1800759 (SNP6) in the promoter region is most important.

Therefore, a potentially large repertoire of functional variants exists in these loci.

Here, we searched for other potential functional variants within MYC-335.

Conclusions: This study illustrates the distribution of ROH and functional variants within ROH in cattle populations.

However, linkage analyses conditional on the single nucleotide polymorphism indicated that other functional variants should exist.

These findings endorse an iPSC-based experimental framework to discover functional variants and genes contributing to complex human traits.

Our data support the importance of multi-ethnic GWAS in the identification of novel risk loci as well as functional variants.

Functional variants in ADAMTS10 are associated with Weill-Marchesani syndrome-1.

The risk-influencing alleles were fine mapped from among the markers studied and were found to coincide with some well-known functional variants.

Compared to the low-pass sequencing in the 1KGP, the deeper coverage allows more functional variants to be identified for each person.