Sentence examples for deleterious variation 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].

These isolated island populations have persisted for thousands of years at extremely small population sizes [6, 7] and, consequently, are a model for testing ideas about the accumulation of deleterious variation in small populations under natural conditions.

With population sizes of many vertebrates decreasing and isolation increasing through habitat fragmentation and loss, understanding the extent and nature of deleterious variation in small populations is essential for predicting and enhancing population persistence.

Our data suggest that CNVs contribute pathogenic alleles to a substantial fraction of BBS-affected individuals and highlight how either deletions or point mutations in discrete splice isoforms can induce hypomorphic mutations in genes otherwise intolerant to deleterious variation.

Bustamante et al., [24] suggests that this may indicate an excess of mildly deleterious variation possibly due to balancing selection.

Moreover, some authors suggest that deletions are more deleterious than insertions [11], [12], while others have argued that insertions may be deleterious because they increase the number of sites that can mutate into deleterious variation [13].

In general, "damaging and deleterious variations" indicate variations underlying highly penetrant diseases, and "neutral or susceptibility variations" indicate variations known to be phenotypically silent or associated with increased risk of developing a disease [36].

Although the sources of deleterious variation-inbreeding and mutation accumulation-and the chaperones-Hsp90 and GroEL-differ in these two organisms, chaperones have the same qualitative effect in both cases.

Only two patients with early onset CD exhibit rare potentially deleterious variations within NOD2.

Purifying selection can result in stabilizing selection through the purging of deleterious variations that arise.

Presently, the interface supports browse options for the following features: synonymous variations, regulatory variations, deleterious variations and drug resistance variations.