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In TANTIGEN, an interactive visualization tool, mutation map, has been implemented to provide a global view of all mutations reported in a tumor antigen.
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Of note, in silico analysis using several tools (Mutation Taster, PolyPhen-2, SIFT, Provean) predicted a damaging effect for all of them.
The putative effect of the mutations identified in CTSK gene was predicted using the publicly available tools Mutation Taster (http://www.mutationtaster.org/), PolyPhen-2 (http://genetics.bwh.harvard.edu/pph2/), SIFT and Provean (http://provean.jcvi.org/genome_submit.php).jcvi.org/genome_submit.php
Based on the VCF with exonic mutations, this tool mutated the original reference, which was then used to create mutated lncRNA FASTA sequences.
The Extractor of Mutations (EMU) tool identifies mutations and their associated genes related to Breast and Prostate Cancers (10).
Consequently, FMCA has become a versatile tool for mutation detection [10], [11].
Probe-based fluorescence melting curve analysis (FMCA) is a powerful tool for mutation detection based on melting temperature generated by thermal denaturation of the probe-target hybrid.
Exome capture has become a popular tool for mutation screening in clinical genetics.
The third best tool is MutationTaster, whose TPR is 23% lower than VAAST 2.0 at the same FPR level.
These findings demonstrate the feasibility of using the mismatch-specific endonuclease method as a tool for mutation screening.
Our data support the notion that screening for MSI in tumours is an efficient prescreening tool for mutation analysis.
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