Pangenome discovery of missing autism variants
Yang Sui, Jiadong Lin, Michelle D. Noyes, Youngjun Kwon, Isaac Wong, Nidhi Koundinya, William T. Harvey, Mei Wu, Kendra Hoekzema, Katherine M. Munson, Gage H. Garcia, Jordan Knuth, Julie Wertz, Tianyun Wang, Kelsey M. Hennick, , Glenn Hickey
The paper uses long-read sequencing to identify pathogenic variants in autism cases, finding three pathogenic mutations and nine candidate structural variants missed by short-read sequencing.
Nature Communications · Jan 23, 2026Peer-reviewedGenetic & Genomic Medicine