Sentence examples for mutation detection methodologies from inspiring English sources

Therefore, massively parallel sequencing is ideally suited to validate other mutation detection methodologies.

Thus even a wide range of mutation detection methodologies exist, DNA sequencing technology has been considered as the gold standard.

Future studies may need to employ a combination of LKB1 mutation detection methodologies including the current method, MLPA and direct sequencing.

With regard to RAD51 mutations and cancer predisposition, three studies have used various mutation detection methodologies to screen RAD51 in breast cancer patients.

Many JAK2 V617F mutation detection methodologies have been developed and published over the last few years, only some of which are applicable to minimal residual disease [ 7- 13, 13- 18, 21- 27].

A wide range of mutation detection methodologies exist, of which sequencing has been considered the gold standard because of its ability to identify the specific DNA sequence change that has occurred.

We also checked our observations with an alternative mutation detection methodology (SHORE [ 37]).

Through WES performed for the index and her unaffected parents (Methodology - Mutation Detection using WES – a case study), rare variants were identified and assessed for their potential to disrupt protein function.

The variety of methodologies used for mutation detection probably account for much of the wide divergence of mutation frequencies often reported for particular genes in given cancer types.

The low throughput of the CEl1-based TILLING strategy [ 19] has motivated several groups to develop alternative methodologies including direct mutation detection using HRM [ 37, 41, 42], or massively parallel (next-generation) sequencing (NGS) of specific targets [ 20- 23, 43].

Furthermore, the methodology of ATM mutation detection is still laborious and costly.