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Showing 1–1 of 1 results
Advanced filters: Author: Hanna Berk-Rauch Clear advanced filters

  • Large-effect variants in autism remain elusive. Here, the authors use long-read sequencing to assemble phased genomes for 189 individuals, identifying pathogenic variants in TBL1XR1, MECP2, and SYNGAP1, plus nine candidate structural variants missed by short-read methods.

    • Yang Sui
    • Jiadong Lin
    • Evan E. Eichler
    ResearchOpen Access
    Nature Communications
    P: 1-16