An analysis of post-mortem brain transcripts led to Alzheimer's-related alternative gene splicing and expression events, including those influenced by known risk alleles.
Over the next four years, researchers will aim to pinpoint the impact of personal genomic information given to patients with autism and their families.
A study found that cis-regulatory variation modifies the penetrance of coding variants, and that variants' regulatory haplotype configuration affects disease risk.
Researchers at Columbia University and CHOP believe they can shorten time to diagnosis and improve yield by extracting phenotypic data from EHRs for genomic labs.
