Ontology highlight
ABSTRACT:
SUBMITTER: Bacchelli E
PROVIDER: S-EPMC10635364 | biostudies-literature | 2023 Oct
REPOSITORIES: biostudies-literature
Bacchelli Elena E Viggiano Marta M Ceroni Fabiola F Visconti Paola P Posar Annio A Scaduto Maria M Sandoni Laura L Baravelli Irene I Cameli Cinzia C Rochat Magali M Maresca Alessandra A Vaisfeld Alessandro A Gentilini Davide D Calzari Luciano L Carelli Valerio V Zody Michael M Maestrini Elena E
Research square 20231028
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic component in which rare variants contribute significantly to risk. We have performed whole genome and/or exome sequencing (WGS and WES) and SNP-array analysis to identify both rare sequence and copy number variants (SNVs and CNVs) in 435 individuals from 116 ASD families. We identified 37 rare potentially damaging de novo SNVs (pdSNVs) in cases (n = 144). Interestingly, two of them (one stop-gain and o ...[more]