Excess of Homozygous Ultra-Rare Exonic Variants in Schizophrenia: Evidence for Recessive Effects

Biological Psychiatry(2022)

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摘要
To date, rare variant research in schizophrenia (SZ) has focused on dominant exonic variants; there has been limited research examining the recessive mode of inheritance. The Ashkenazi Jewish (AJ) population is marked by an excess of homozygosity, due to a history of endogamy and a small founder population, and may provide enhanced power for studies of recessive loci.
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关键词
Schizophrenia Risk, Genetic Variants, Exome
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