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Showing 1–9 of 9 results
Advanced filters: Author: Ryan Thomas Devlin Clear advanced filters

  • Whole-exome sequencing in a large autism study identifies over 100 autosomal genes that are likely to affect risk for the disorder; these genes, which show unusual evolutionary constraint against mutations, carry de novo loss-of-function mutations in over 5% of autistic subjects and many function in synaptic, transcriptional and chromatin-remodelling pathways.

    • Silvia De Rubeis
    • Xin He
    • Joseph D. Buxbaum
    Research
    Nature
    Volume: 515, P: 209-215

  • Informal workers contribute meaningfully to cities worldwide. This Perspective argues that current regulatory approaches in San Francisco and New York City constrain informal work and workers, considering cases from the Global South in service of a more inclusive approach.

    • Irene Farah
    • Ryan Thomas Devlin
    • Christine Hegel
    Reviews
    Nature Cities
    Volume: 2, P: 918-923

  • Structural variants (SVs) contribute to the genetic architecture of many brain-related disorders. Here, the authors integrate SV calls from genome sequencing (n = 755) with RNA-seq data (n = 629) from post-mortem dorsal lateral prefrontal cortex to annotate the gene regulatory effects of SVs in the human brain and their potential to contribute to disease.

    • Lide Han
    • Xuefang Zhao
    • Douglas M. Ruderfer
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-13

  • Few cancer drivers in non-coding regions have been identified so far. Here, the authors develop a transcription factor-aware burden test to predict non-coding variants and analyze the impact on transcription factor binding - especially ETS factors - as well as their impact on transcriptional activity.

    • Sebastian Carrasco Pro
    • Heather Hook
    • Juan Ignacio Fuxman Bass
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-15

  • MSK-IMPACT is a clinical sequencing platform able to detect genomic mutations, copy number alterations and structural variants in a panel of cancer-related genes. This assay is implemented prospectively to inform patient enrollment in genomically matched clinical trials at Memorial Sloan Kettering Cancer Center (MSKCC). Sequencing results of tumor and matched normal tissue from a cohort of >10,000 patients with detailed clinical annotation provide an overview of the genomic landscape of advanced solid cancers and bring new insights into molecularly guided cancer therapy.

    • Ahmet Zehir
    • Ryma Benayed
    • Michael F Berger
    Research
    Nature Medicine
    Volume: 23, P: 703-713

  • Sleep disturbance is common in psychiatric disease, and this may contribute to altered circadian rhythm in gene expression. Here the authors show that rhythms in gene expression in the dorsolateral prefrontal cortex in schizophrenia are different to that seen in healthy controls.

    • Marianne L. Seney
    • Kelly Cahill
    • Colleen A. McClung
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-11