Open AccessA Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders
Author(s) -
Andrea J. Gonzalez-Mantilla,
Andrés Moreno-De-Luca,
David H. Ledbetter,
Christa Lese Martin
Publication year - 2016
Publication title -
jama psychiatry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.531
H-Index - 365
eISSN - 2168-6238
pISSN - 2168-622X
DOI - 10.1001/jamapsychiatry.2015.2692
Subject(s) - candidate gene , loss function , genetics , biology , gene , phenotype , genome wide association study , intellectual disability , autism , genetic architecture , medicine , single nucleotide polymorphism , genotype , psychiatry
Developmental brain disorders are a group of clinically and genetically heterogeneous disorders characterized by high heritability. Specific highly penetrant genetic causes can often be shared by a subset of individuals with different phenotypic features, and recent advances in genome sequencing have allowed the rapid and cost-effective identification of many of these pathogenic variants.
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