Thread by @Jacob_Vorstman

1/7 Very excited to share findings of the largest #autism whole genome sequencing (WGS) study, published in Cell @CellCellPress @SickKidsNews @autismspeaks
Over 100 investigators involved.. a true team science effort!

authors.elsevier.com/a/1g3VbL7PXiqSv

2/7 Of note, the latest release of the Autism Speaks MSSNG resource (research.mss.ng) contains whole-genome sequencing data from over 11,300 individuals from families with autism.

3/7 Analysis of MSSNG in conjunction with SFARI (sfari.org) and ASC (genome.emory.edu/ASC/) revealed 134 autism-associated genes.

4/7 This study expanded existing WGS analyses by examining a broad range of variants, incl. short insertions/deletions, mitochondrial DNA variants, and structural variants (copy-number variants, inversions, larger insertions, uniparental disomies, and tandem repeat expansions).

5/7. Many complex autism-associated variants were identified that would not have been detectable without WGS, highlighting the strength and relevance of this approach. For example, a de novo frameshift nuclear mitochondrial nuclear mitochondrial insertion in SYNGAP1.

6/7 Polygenic risk scores (PRS) were over-transmitted from parents to children with ASD, but not to siblings without ASD; however, they were not predictive at the level of individuals or families.

7/7 Relevant rare genetic variants were identified in approximately 14% of individuals with autism.