TY - CHAP
T1 - Genetics of autism spectrum disorder
AU - Ramaswami, Gokul
AU - Geschwind, Daniel H.
N1 - Publisher Copyright:
© 2018 Elsevier B.V.
PY - 2018
Y1 - 2018
N2 - Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by impaired social interaction and stereotyped behaviors. ASD has a strong and complex genetic component, with multiple familial inheritance patterns and an estimate of up to 1000 genes potentially implicated. Over the past decade, genomic technologies have enabled rapid progress in the identification of risk genes for ASD. In this chapter, we review the delineation of ASD disease genes starting from traditional genetic studies such as linkage and association, and then focusing on more recent studies utilizing genomic technologies, such as high-throughput genotyping and exome sequencing.
AB - Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by impaired social interaction and stereotyped behaviors. ASD has a strong and complex genetic component, with multiple familial inheritance patterns and an estimate of up to 1000 genes potentially implicated. Over the past decade, genomic technologies have enabled rapid progress in the identification of risk genes for ASD. In this chapter, we review the delineation of ASD disease genes starting from traditional genetic studies such as linkage and association, and then focusing on more recent studies utilizing genomic technologies, such as high-throughput genotyping and exome sequencing.
KW - autism risk genes
KW - autism spectrum disorder
KW - copy number variation
KW - de novo mutations
KW - genome-wide association study
KW - whole-exome sequencing
KW - whole-genome sequencing
UR - https://www.scopus.com/pages/publications/85042137603
U2 - 10.1016/B978-0-444-63233-3.00021-X
DO - 10.1016/B978-0-444-63233-3.00021-X
M3 - Chapter
C2 - 29325621
AN - SCOPUS:85042137603
T3 - Handbook of Clinical Neurology
SP - 321
EP - 329
BT - Handbook of Clinical Neurology
PB - Elsevier B.V.
ER -