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Chunk #19 — Results/Discussion

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Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.
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a subset of autism patients. Our study further emphasizes the power of whole exome and whole genome approaches in allowing a complete survey of all potential mutations in the patient genome, and the systematic screening of all major modes of inheritance. Recent studies have confirmed the contribution of de novo point mutations (5–20% of cases) [40] and de novo copy number variants (5–10% of cases) [41] to autism.