Julie Rosenbaum

TL;DR: It is estimated that LGD mutation in about 400 genes can contribute to the joint class of affected females and males of lower IQ, with an overlapping and similar number of genes vulnerable to contributory missense mutation.

TL;DR: Exome sequencing of 343 families, each with a single child on the autism spectrum and at least one unaffected sibling, reveals de novo small indels and point substitutions, which suggest FMRP-associated genes are especially dosage-sensitive targets of cognitive disorders.

TL;DR: This work characterized whole genome sequencing, whole exome sequencing, and PCR-free sequencing data from the same samples to investigate the sources of INDEL errors and developed a classification scheme based on the coverage and composition to rank high and low quality INDEL calls.

TL;DR: This protocol describes how to use Scalpel to perform highly accurate indel calling from whole-genome and whole-exome sequencing data and provides detailed instructions for an exemplary family-based de novo study.