Using the linear references from the pangenome to discover missing autism variants. | UCSF Helen Diller Family Comprehensive Cancer Center

Author List

Sui Y, Lin J, Noyes MD, Kwon Y, Wong I, Koundinya N, Harvey WT, Wu M, Hoekzema K, Munson KM, Garcia GH, Knuth J, Wertz J, Wang T, Hennick K, Karunakaran D, Polo Prieto RA, Meyer-Schuman R, Cherry F, Pehlivan D, Suter B, Gustafson JA, Miller DE, Human Pangenome Reference Consortium (HPRC), Berk-Rauch H, Nowakowski TJ, Chakravarti A, Zoghbi HY, Eichler EE

Publication

Nature communications

Publication ID (Profile URL)

https://researcherprofiles.org/profile/749699523

Publication Year

2026

PubMed ID

41577710

Publication Title

Sui Y, Lin J, Noyes MD, Kwon Y, Wong I, Koundinya N, Harvey WT, Wu M, Hoekzema K, Munson KM, Garcia GH, Knuth J, Wertz J, Wang T, Hennick K, Karunakaran D, Polo Prieto RA, Meyer-Schuman R, Cherry F, Pehlivan D, Suter B, Gustafson JA, Miller DE, Human Pangenome Reference Consortium (HPRC), Berk-Rauch H, Nowakowski TJ, Chakravarti A, Zoghbi HY, Eichler EE. Using the linear references from the pangenome to discover missing autism variants. Nat Commun. 2026 Jan 23; 17(1):1681.

Publication Medline TA

Nat Commun

Date

2026-01-23