Simons Foundation
Study Describes De Novo Mutation Detection With Long-Read Familial Sequence Data
With multifaceted sequencing on four members of an autism-affected family, researchers identified previously unappreciated de novo germline insertions, deletions, and SNPs.
Using data for more than 10,200 individuals with autism spectrum disorder and their family members, researchers delineated rare, inherited alterations and de novo changes.
Run by the Simons Foundation Autism Research Initiative, SPARK has already grown to more than 220,000 participants from 75,000 families living in the US.