The Genomics Research and Innovation Network (GRIN) is a federated platform from three major pediatric hospitals to assist in research and treatment of rare diseases.
A small but significant proportion of autism spectrum disorder cases — particularly those occurring in females — appeared to involve biallelic loss-of function or missense mutations.
Researchers brought together blood transcriptomic, metabolomic, proteomic, and immune cell profiles for dozens of West African and Australasian infants.
BabySeq Project researchers reported that genomic sequencing could find even healthy newborns who are at risk of developing childhood-onset conditions.
Two thirds of families who attended enrollment sessions signed up, but those who did not voiced concerns about privacy, discrimination, and return of results.
