SFARI | Topic: Genetics

Using newly developed computational tools to assess the contribution of tandem repeat mutations to autism risk

De novo mutations contribute to a large fraction of autism spectrum disorders (ASD) risk, but the contribution of complex variant types remains largely unexplored. Melissa Gymrek aims to utilize her recently developed novel computational tools to evaluate the role of genetic variation in repetitive regions of the genome in ASD.

Mutually exclusive autism mutations point to the circadian clock and PI3K signaling pathways.

Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk.

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.

Homozygous non-canonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delays.

Next-Generation Sequencing in Autism Spectrum Disorder.

Regulatory genes and pathways disrupted in autism spectrum disorders.

Outgroup machine learning approach identifies single nucleotide variants in noncoding DNA associated with autism spectrum disorder.

A reference haplotype panel for genome-wide imputation of short tandem repeats.

Identification of common genetic risk variants for autism spectrum disorder.