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

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Title: Using the linear references from the pangenome to discover missing autism variants.
Authors: Sui Y; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Lin J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Noyes MD; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Kwon Y; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Wong I; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Koundinya N; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Harvey WT; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Wu M; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Munson KM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Garcia GH; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Knuth J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Wertz J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Wang T; Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, China.; Neuroscience Research Institute, Peking University; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing, China.; Autism Research Center, Peking University Health Science Center, Beijing, China., Hennick K; Department of Neurological Surgery, University of California, San Francisco, CA, USA.; Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA., Karunakaran D; Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA., Polo Prieto RA; Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA., Meyer-Schuman R; Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA., Cherry F; Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA., Pehlivan D; Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Suter B; Texas Children's Hospital, Houston, TX, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Gustafson JA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Molecular and Cellular Biology Program, University of Washington, Seattle, Washington, USA., Miller DE; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA., Berk-Rauch H; Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA., Nowakowski TJ; Department of Neurological Surgery, University of California, San Francisco, CA, USA.; Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA., Chakravarti A; Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA.; Department of Neuroscience and Physiology, New York University Grossman School of Medicine, New York, NY, USA., Zoghbi HY; Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA.; Department of Neurology, Baylor College of Medicine, Houston, TX, USA.; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA. ee3@uw.edu.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA. ee3@uw.edu.
Corporate Authors: Human Pangenome Reference Consortium (HPRC)
Source: Nature communications [Nat Commun] 2026 Jan 23; Vol. 17 (1), pp. 1681. Date of Electronic Publication: 2026 Jan 23.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
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