Sentence examples for mutation detection were from inspiring English sources

Multiple sequence alignments and mutation detection were performed as previously described [38], [52].

Multiple sequence alignment and mutation detection were performed as previously described [ 10].

Moreover, the precision study demonstrated that results for the mutation detection were highly reproducible and reliable including for mutant allele frequencies of 5%.

Allele typing and mutation detection were performed on the gel image using Phoretix™ 1D Advance software (Nonlinear Dynamics, Newcastle upon Tyne, UK).

Samples and control DNA for the HRM optimisation and targeted mutation detection were obtained from the Diagnostic Molecular Pathology laboratory at the Peter MacCallum Cancer Centre and from the Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer (kConFab).

As low as 0.86 fM mutant DNA was detected by this assay, and positive mutation detection was achieved with a wild-type to mutant ratio of 10,000 1.

The positive mutation detection is achieved with a wild-type to mutant ratio of 5000 1.

Mutation detection is complex, due to the large gene size, the large variety of mutations and the presence of pseudogenes.

In this study, an rolling circle amplification (RCA) based electrochemiluminescence (ECL) assay for highly sensitive point mutation detection was developed.

Mutation detection was performed by melting peak analysis of the probe PCR product hybrid performed on a LightCycler (Roche Diagnostic).

In validation studies using an analytical mutation standard, the sensitivity of the assay for EGFR mutation detection was at least 0.1% and specificity was 100%.