Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

TLDR

We have content for each. So: "The study applied the technique to 44 candidate genes to identify de novo mutations in a large cohort of individuals with and without autism spectrum disorder." That's fine. Mechanism: We have two lines: [Mechanism] line: "(p. 1619 ; published online 15 November) modified molecular inversion probe methods for target-specific capture and sequencing to resequence candidate genes in thousands of patients." And [Purpose, Mechanism] line includes the technique applied to 44 candidate genes. Let's craft: "The authors modified molecular inversion probe methods for target-specific capture and sequencing to resequence candidate genes in thousands of patients, applying it to 44 genes in a large cohort." That covers.

Abstract

Autism Genes, Again and Again Despite recent advances in sequencing technologies and their lowered costs—effective, highly sensitive, and specific sequencing of multiple genes of interest from large cohorts remains expensive. O'Roak et al. (p. 1619 ; published online 15 November) modified molecular inversion probe methods for target-specific capture and sequencing to resequence candidate genes in thousands of patients. The technique was applied to 44 candidate genes to identify de novo mutations in a large cohort of individuals with and without autism spectrum disorder. The analysis revealed several de novo mutations in genes that together contribute to 1% of sporadic autism spectrum disorders, supporting the notion that multiple genes underlie autism-spectrum disorders.