Computational protocol: Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome

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Protocol publication

[…] Structural analysis of point variants is important to understand the functional activity of the mutated protein. We used three complementary algorithms for functional impact prediction of the novel variants: Sorting Intolerant From Tolerant (SIFT) (available online: http://blocks.fhcrc.org/sift/SIFT.html) [], Polymorphism Phenotyping (PolyPhen) (available online: http://genetics.bwh.harvard.edu/pph/) [] and Human Splicing Finder (HSF) (available online: http://www.umd.be/HSF/) [], as described in our previous studies [,]. […]

Pipeline specifications

Software tools SIFT, PolyPhen, HSF
Application WGS analysis