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Pangenome discovery of 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. (2025). Pangenome discovery of missing autism variants. medRxiv [Preprint] Jul 22:2025.07.21.25331932. doi: 10.1101/2025.07.21.25331932.

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