Article
Integrated Functional Analysis Implicates Syndromic and Rare Copy Number Variation Genes as Prominent Molecular Players in Pathogenesis of Autism Spectrum Disorders.
Neuroscience - 1 Jul 2020
Ashitha S Niranjana Murthy, Ramachandra Nallur B
Abstract excerpt
Autism Spectrum Disorders (ASD) are caused by disrupted neurodevelopment leading to socio-communication and behavioural abnormalities. Although genetic anomalies like Copy Number Variations (CNV) have been implicated in ASD, their overall genomic landscape and pathogenicity remain elusive. Therefore, we created a CNV map for ASD using 9337 cases and 5650 controls from SFARI database, statistically marked genomic...
Topics
- Autism Spectrum Disorder
- DNA Copy Number Variations
- Genomics
- Humans
- Phenotype