Article
De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm.
BMC genomics - 14 Feb 2017
Aggarwala Varun, Ganguly Arupa, Voight Benjamin F
Abstract excerpt
BACKGROUND: Studies of de novo mutations offer great promise to improve our understanding of human disease. After a causal gene has been identified, it is natural to hypothesize that disease relevant mutations accumulate within a sub-sequence of the gene - for example, an exon, a protein domain, or at CpG sites. These assessments are typically qualitative, because we lack methodology to assess the statistical...
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