Article
No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia.
European journal of human genetics : EJHG - 1 Apr 2015
Ruderfer Douglas M, Lim Elaine T, Genovese Giulio, Moran Jennifer L, Hultman Christina M, Sullivan Patrick F, McCarroll Steven A, Holmans Peter, Sklar Pamela, Purcell Shaun M
Abstract excerpt
Recessive inheritance of gene disrupting alleles, either through homozygosity at a specific site or compound heterozygosity, have been demonstrated to underlie many Mendelian diseases and some complex psychiatric disorders. On the basis of exome sequencing data, an increased burden of complete knockout (homozygous or compound heterozygous) variants has been identified in autism. In addition, using...
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