Sentence examples for harmful variants from inspiring English sources

Much less attention is directed at understanding the landscape of deleterious variation, an insidious consequence of geographic isolation and the inefficiency of natural selection to eliminate harmful variants in small populations [3 5].

Proband 8 was diagnosed at a young age with IBDU, and possesses two possibly harmful variants in ICAM1, one in BTNL2 and a novel deleterious variant in SH2B1.

‬‬ Studies carried out so far were unable to discriminate between two basic assumptions, that is, whether the ability to reach the extreme limits of human life is due to the presence of polymorphisms in "longevity genes" that promotes the achievement of old age or to the absence of harmful variants [ 39].

In partnership with the South San Francisco-based Numerate, the researchers are aiming to develop a "structure corrector" drug that would alter the apoE4 protein in patients so that it is indistinguishable from its non-harmful variant, apoE3.

The more harmful genetic variants are discovered, the more compelling the logic may seem of fixing the bugs in the genomic programming directly instead of treating the symptoms in each generation, a procedure called germ-line gene therapy.

But Cirulli and Goldstein want to determine whether these folks survive so long in part because they carry fewer harmful genetic variants, such as those that might lead to faulty or nonfunctional proteins.

Because postulated mechanisms of amyloid formation involve nucleation and aggregation-prone seed structures, even low quantities of potentially harmful IDP variants may trigger aggregation.

Using isolates is advantageous because of very similar exposure to environmental factors and effects of small Ne – enrichment of some harmful sequence variants because of more pronounced random genetic drift, a higher level of consanguinity and overall genetic homogeneity.

Recently developed technologies that allow scientists to rapidly sequence all the gene-encoding regions of an individual's DNA their genome offer a new way to identify harmful genetic variants.

And another two studies of 479 gastric cancer cases and 880 controls in Japanese [ 42] and 1001 sporadic colorectal cancer patients and 1005 cancer-free controls in Chinese [ 22] also displayed harmful role of rs28362491ins variants for gastric cancer and CRC risk.

Since huge physiological variations in quantity and distribution of body fat exist among healthy humans, it is necessary to provide evidence that a variant is harmful in order to classify it as pathological.