Article
The number of candidate variants in exome sequencing for Mendelian disease under no genetic heterogeneity.
Computational and mathematical methods in medicine - 1 Jan 2013
Nishino Jo, Mano Shuhei
Abstract excerpt
There has been recent success in identifying disease-causing variants in Mendelian disorders by exome sequencing followed by simple filtering techniques. Studies generally assume complete or high penetrance. However, there are likely many failed and unpublished studies due in part to incomplete penetrance or phenocopy. In this study, the expected number of candidate single-nucleotide variants (SNVs) in exome data...
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