title: Genetic research in autism spectrum disorders.
abstract: OBJECTIVE
  The recent explosion of genetic findings in autism spectrum disorder (ASD) research has improved knowledge of the disorder's underlying biology and etiologic architecture. This review introduces concepts and results from recent genetic studies and discusses the manner in which those findings can influence the trajectory of ASD research.
  
  
  RESULTS
  Large consortium studies have associated ASDs with many types of genetic risk factors, including common polygenic risk, de novo single nucleotide variants, copy number variants, and rare inherited variants. In aggregate, these results confirm the heterogeneity and complexity of ASDs. The rare variant findings in particular point to genes and pathways that begin to bridge the gap between behavior and biology.
  
  
  CONCLUSIONS
  Genetic studies have the potential to identify the biological underpinnings of ASDs and other neuropsychiatric disorders. The data they generate are already being used to examine disease pathways and pathogenesis. The results also speak to ASD heterogeneity and, in the future, may be used to stratify research studies and treatment trials.
authors.affiliation: aAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston bStanley Center for Psychiatric Research and Program in Medical and Population Genetics, Broad Institute of Harvard and MIT cDepartment of Stem Cell and Regenerative Biology, Harvard University, Cambridge, Massachusetts, USA.
authors.forename: Elise B
authors.initials: EB
authors.lastname: Robinson
authors.forename: Benjamin M
authors.initials: BM
authors.lastname: Neale
authors.forename: Steven E
authors.initials: SE
authors.lastname: Hyman
mesh_terms: D000067877:Autism Spectrum Disorder / Q000209:etiology / Q000235:genetics*; D056915:DNA Copy Number Variations; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D036281:Genetic Research; D005820:Genetic Testing; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D040582:Inheritance Patterns; D012307:Risk Factors; D017422:Sequence Analysis, DNA; D017423:Sequence Analysis, RNA; D018433:Twin Studies as Topic