Using the linear references from the pangenome to discover missing autism variants
Yang Sui, Jiadong Lin, Michelle D. Noyes, Youngjun Kwon et autres
To better understand large-effect pathogenic variation associated with autism, we generated long-read sequencing (LRS) data to construct phased and near-complete genome assemblies (average contig N50 = 43 Mbp, QV = 56) for 189 individuals from 51 families with unsolved cases. We applied …
us, cn, me, il, gb, ae, it, ca, de, fr (code pays fourni par la source)
4 citations
Nature Communications