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PolyPhen uses sequence alignments and protein 3D-structures for predictions.
Recently, targeted next-generation sequencing has been used for mutation detection in single cells as a proof-of-principle study for use in PGD.
Sanger sequencing is widely used for mutation detection but can be technically challenging, resulting in longer turn-around-time, with limited sensitivity for low levels of mutations.
Multiple sequence alignment and mutation detection were performed as previously described [ 10].
Validation data can be used to assess the accuracy of either the technology (eg, sequencing for mutation detection) or the specific test (eg, sequencing for mutation detection in the BRCA1 gene).
Pyrosequencing is a nonelectrophoretic nucleotide extension sequencing technology that can be used for mutation detection in tumors.
TREAT is optionally offered as part of a complete workflow for exome or targeted sequencing, providing users with a convenient method for integrated sequence alignment, mutation detection and results interpretation.
The Variant Reporter software was used for mutation detection (Applied Biosystems).
The cobas® EGFR Tissue Test was used for mutation detection.
Multiple sequence alignments and mutation detection were performed as previously described [38], [52].
L. Chen carried out the sequence alignment, mutation detection, selection pressure and conditional selection pressure analysis.
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