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Using the linear references from the pangenome to discover missing autism variants

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. (2026). Using the linear references from the pangenome to discover missing autism variants. Nat Commun Jan 23;17(1):1681. doi: 10.1038/s41467-026-68378-4.

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