Sentence examples for mutation screening studies from inspiring English sources

Exon 1 contains 114 bp of coding sequence and has similarly been excluded from other mutation screening studies [ 12, 22].

While these mutation screening studies may be largely correlative, several experiments have helped establish the p300/CBP mutation as being causative.

Previously, we performed case-control mutation screening studies of ATM, CHEK2, XRCC2, and RAD51 to clarify our understanding of their role in breast cancer susceptibility [ 19- 22].

According to several population-based mutation screening studies, TGFβ3 is considered a candidate gene for non-syndromic CP in humans [ 16- 22].

In our case-control mutation screening studies of ATM, CHEK2, RAD51, and XRCC2, we excluded from statistical analysis sequence variants with allele frequencies above an arbitrarily selected frequency of 0.5%.

Previous mutation screening studies have indicated that mis-sense mutations in the ATM gene – rather than protein-truncating mutations – are over-represented in patients with breast cancer compared with the general population [ 72, 75- 79].

A confounding issue associated with any mutation screening study, but particularly relevant for DSD, is parent of origin effect.

The 89 subjects included in this study were drawn from a large-scale case-control mutation screening study involving 1415 cases and 1204 controls, that has been described elsewhere [ 22, 23].

CHEK2 sequence variants included in our 2011 CHEK2 case-control mutation screening study [ 20] were evaluated in the same way except that (a) position in the protein was not considered, and (b) logistic regressions were adjusted for study center and race/ethnicity.

To further understand the genetic effects of SLC30A8, Flannick et al. have recently conducted a mutation screening study for rare variants in the gene (the minor allele frequency is less 1%) and suggested that the rare variants with loss of function may protect against T2D [ 16].

In addition, high sensibility mutation detection methods were also developed to perform a mutational screening study for the most frequent EGFR activating mutations.