SFARI | Topic: Genetics

Polygenic scores for empathy associate with posttraumatic stress severity in response to certain traumatic events.

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.

SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder.

Accurate in silico confirmation of rare copy number variant calls from exome sequencing data using transfer learning.

DNA methylation signature associated with Bohring-Opitz syndrome: A new tool for functional classification of variants in ASXL genes.

Mobile elements in human population-specific genome and phenotype divergence.

Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p.

Copy number variation and pathogenic variant analyses of SPARK exomes

Genetic variants contribute significantly to the etiology of autism, and unlike single-nucleotide variants (SNVs), copy number variants (CNVs) are more difficult to detect from genetic sequencing datasets. The goal of this proposal is to significantly increase the yield of high-impact autism mutations by focusing on the discovery of both CNVs and SNVs in autism families from SPARK. Using established and novel computational pipelines, Evan Eichler and colleagues propose to work with the SPARK Consortium to generate a high-confidence set of potential pathogenic variants and then integrate these data into larger genetic variant databases to pinpoint pathogenic variants and novel genes associated with autism.

Somatic mutations reveal hypermutable brains and are associated with neuropsychiatric disorders.

Enhancing the discriminatory power of ADHD and autism spectrum disorder polygenic scores in clinical and non-clinical samples.