Sentence examples for risk mutation from inspiring English sources

Each individual risk mutation makes a small contribution to the overall risk of Crohn's (approximately 1 200).

An alternative strategy applied also in this study is to identify subjects at high risk of disease, e.g. specific risk mutation carriers, and follow them up during the asymptomatic phase.

Within a family, carrying a risk mutation may represent risk for a constellation of developmental phenotypes.

Thus, the cohort spans the continuum of risk including women at very high risk (mutation carriers) and those at lower risk (mutation negative and/or with more distant relatives with cancer).

In patient 11872.p1, another risk mutation of unknown functional relevance (splice site mutation in KATNAL2) was reported (24).

For each ARG, a putative risk mutation is placed on the marginal tree and the frequency of each branch in cases and controls is assessed.

Familial and sporadic CAA are unlikely to share individual risk mutations.

In addition to these rare, higher risk mutations, ∼100 common, low-penetrance variants have currently been identified through GWAS.

Identifying rare, highly penetrant risk mutations may be an important step in dissecting the molecular etiology of schizophrenia.

High-penetrance breast cancer risk mutations such as those of BRCA1 and BRCA2 have been identified [ 3, 4].

Therefore, WGS identified additional predicted cancer risk mutations in BRCA1/2-carrier patients that were missed using standard clinical methods.