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Chunk #5 — Methods (for on-line version only) — Rate of de novo SNVs

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De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
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yes

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To allow an accurate comparison between the de novo burden in probands and siblings the number of de novo SNVs found in each sample was divided by the number of bases analyzed (i.e. bases with ≥20 unique reads in all familiy members) to calculate a per base rate of de novo SNVs. Rates are given in Table 1.