Ontology highlight
ABSTRACT:
SUBMITTER: Ruderfer DM
PROVIDER: S-EPMC4666583 | biostudies-literature | 2015 Apr
REPOSITORIES: biostudies-literature
Ruderfer Douglas M DM Lim Elaine T ET Genovese Giulio G Moran Jennifer L JL Hultman Christina M CM Sullivan Patrick F PF McCarroll Steven A SA Holmans Peter P Sklar Pamela P Purcell Shaun M SM
European journal of human genetics : EJHG 20141105 4
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 single-nucleotide polymorphism microarray data, an increased rate of homozygosity by descent, or au ...[more]