Sentence examples for variant findings from inspiring English sources

Recent rare variant findings have pointed to the importance of copy number variation, the overlap of risks among distinct diagnostic entities, the contribution of novel molecular mechanisms, and the value of family based studies.

The rare variant findings in particular point to genes and pathways that begin to bridge the gap between behavior and biology.

The database will not only help human geneticists to distinguish between benign variant findings and truly disease-causing mutations, but will also benefit genetic epidemiological research (i.e. case-control association studies) based upon large-scale SNV data.

Novel variant findings in BRCA2 (Tables 2 and 3) warrant additional studies, especially the novel missense variant, c.72A > T (Leu24Phe), which was shown not to be tolerated by protein prediction.

Novel variant findings warrant additional studies with special interest in the novel missense variant, BRCA2 c.72A > T (Leu24Phe), which was predicted to bear untolerated mutations and to destabilize the protein.

As basic research accelerates with improved technology and more discoveries are made toward the genetic basis of human diseases, it is critical to incorporate the most updated and comprehensive genetic variant findings into clinical genetic testing.

When the size of the subgraph is a variant, finding frequent subgraphs takes exponential run-time.

Note that there is no contradiction between higher concordance rates for Thunder and better variant finding with Unified Genotyper, because LD-based methods are less adept at finding variants with a lower minor allele frequency.

Supporting computational methods may serve to replicate this same mental process of gathering evidence from complementary sources, assessing agreement of the evidence and summarizing this evidence into a clinical context for interpretation of the gene variant finding [ 47].

So, we concluded that all 148 indels were most likely homopolymer-associated false positive errors and were not true heteroplasmic variants, findings consistent with the Sanger data for these positions.

Thirdly, the risk variants reported by GWA studies are just proxies of the actual causal variants; finding a population-specific risk variant does not necessarily mean that the causal variant is also population specific.