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Showing 1–5 of 5 results
Advanced filters: Author: Mohammadmersad Ghorbani 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

  • From 6,141 Qatari genomes the authors chart structural variants tied to large-scale protein data, biobank traits and everyday health measures. When combined with single nucleotide variants, they find that 1 in 30 participants have a medically actionable genomic finding. The work builds a detailed structural variation reference for Arab ancestries worldwide.

    • Elbay Aliyev
    • Najeeb Syed
    • Khalid A. Fakhro
    ResearchOpen Access
    Nature Communications
    Volume: 17, P: 1-15

  • There is a large diversity of inhibitory interneurons in the mammalian cerebral cortex. How this emerges during embryogenesis remains unclear. Here, the authors identify MTG8 as a co-factor of LHX6 and a new regulator of cortical interneuron development.

    • Zeinab Asgarian
    • Marcio Guiomar Oliveira
    • Nicoletta Kessaris
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-15

  • Arab populations are relatively understudied, especially their genetic architecture and historical relationship with early founders of the ancient Near East. Here, the authors examine 6,218 Qatari whole genomes, revealing insights on migration, population history and genetic structure of populations across the Middle Eastern region.

    • Rozaimi Mohamad Razali
    • Juan Rodriguez-Flores
    • Younes Mokrab
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-16