Sentence examples for mutation screening strategy from inspiring English sources

The detection of CNVs is an essential element of a complete mutation screening strategy.

These findings have important implications in the mutation screening strategy for patients with ARVC.

Here, we apply a case-control mutation screening strategy in an ethnically diverse series of subjects to evaluate MRE11A, RAD50, and NBN.

The mutation screening strategy was similar for all the clinics, that is, the youngest living affected family member was tested first and, if a BRCA1 or/and BRCA2 mutation was found, affected and unaffected family members were offered testing.

Consequently, mutation screening strategies aiming to detect only known mutations have limited value.

Noncoding neutral variations are excluded because in most genes they outnumber coding variations and (1) are not the main interest of the database user, (2) locate in regions that are not included in standard exon-based mutation screening strategies, and (3) are rarely documented in detail in literature reports, the major resource of the database content.

Next-generation sequencing, though, has considerable potential as a mutation screening tool when strategies to distinguish mutations from sequencing errors are employed and sample pooling is used to improve cost-efficiency [ 23].

It is conceivable that the deviations of the reported frequencies of the oncogenic mutations among the limited studies so far might reflect primarily differences in the mutation screening techniques and strategies employed.

The present results should be regarded as an approximation, because the following types of mutation are predicted to escape detection by the screening strategy used: mutations in noncoding regions; missense mutations within BRCA1 exon 11 and BRCA2 exons 10 and 11; large gene deletions; and mutations within the first and last 180 nucleotides of the amplicons analyzed by PTT.

Our goal was to develop a unique and efficient mutation-screening strategy for Cockayne syndrome and related disorders and to improve our understanding of the clinical spectrum of these conditions.

Mutations identified using this screening strategy usually affect well-characterized processes involved in presynaptic function, including exocytosis, endocytosis and neuronal survival (13, 14).