Evan Eichler’s laboratory has considerable experience in the organization of duplicated and repetitive DNA and their role in contributing to de novo deletions and duplications associated with intellectual disability, autism spectrum disorder and other genomic disorders. His team has developed novel computational and experimental methods to characterize genetic variation within both unique and highly duplicated regions in the genome.

As a SFARI Investigator, Eichler developed a copy number variant morbidity map for autism, discovered associated novel, high-impact genes, successfully applied molecular inversion probe (MIP) technology for rapid, cost-effective resequencing of candidate genes, established efficient and uniform workflows for both whole-exome and whole-genome sequencing analyses, and developed a working model to understand the genetic architecture of the condition.