Sentence examples for functionally variant from inspiring English sources

Genome-wide association studies fail when they include too few accessions with functionally variant alleles, or if too many of the functionally variant alleles are distinct from each other.

We find an extraordinary range of functionally variant Notch opa alleles that are invisible to current high-throughput genome sequencing and assembly methods.

Although it is more distantly related to McFAD2, McFAD2v lacks amino acid substitutions in the proximity of the catalytic His box domains that are characteristic of functionally variant FAD2-type enzymes (e.g., conjugase, epoxygenase, hydroxylase) [ 47], suggesting that McFAD2v is likely a typical Δ12 oleic acid desaturase.

So, the genetic markers reported to be associated with ADHD may not be the causal variants (functionally significant variants or FSVs), but rather nearby genetic markers that are tagging true causal variants through LD.

In addition to harboring a gene of as yet unknown function, few functionally relevant variants within this region have been elucidated.

The functionally neutral variant, −215G>T, affects the same nucleotide as the abovementioned functional −215G>A variant.

In addition, we also introduce novel training and validation datasets that i) capture the regional heterogeneity of genomic annotation better than previously applied approaches, and ii) facilitate understanding of which annotations are most important for discriminating different classes of functionally relevant variants from background variants.

Here, after performing very broad substrate analyses, we found that five of the non-synonymous variants (26%% of the functionally tested variants) do not substantially affect OCT1 function.

M06NR1A is located some 46 kb upstream of the gene, suggesting that the functionally relevant variant(s) may regulate the expression of ENPP1.

Recently, we have identified the first functionally pathogenic variant (R672H) in the human TRPC3 gene in a patient with adult-onset cerebellar ataxia (9).

The discovery of a functionally relevant variant requires to identify differences between aligned reads and the sequence of the haploid reference genome.