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Chunk #22 — Results/Discussion

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Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.
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Finally, the approach employed here might be of value to the dissection of other complex traits where extreme genetic heterogeneity is suspected or confirmed. Since many neuropsychiatric conditions - including schizophrenia, intellectual disability, and epilepsy - often (albeit not exclusively) arise from loss of gene function, it is reasonable to suppose that recessive loss of gene function may play detectable roles in other conditions. Despite the rich variation in the human exome, our study design and approach to variant prioritization allowed identification of candidate autism genes from a relatively small sample.