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Showing 1–9 of 9 results
Advanced filters: Author: Kyle Kai-How Farh Clear advanced filters

  • This study describes the integrative analysis of 111 reference human epigenomes, profiled for histone modification patterns, DNA accessibility, DNA methylation and RNA expression; the results annotate candidate regulatory elements in diverse tissues and cell types, their candidate regulators, and the set of human traits for which they show genetic variant enrichment, providing a resource for interpreting the molecular basis of human disease.

    • Anshul Kundaje
    • Wouter Meuleman
    • Manolis Kellis
    ResearchOpen Access
    Nature
    Volume: 518, P: 317-330

  • Genome-wide association studies combined with data from epigenomic maps for immune cells have been used to fine-map causal variants for 21 autoimmune diseases; disease risk tends to be linked to single nucleotide polymorphisms in cell-type-specific enhancers, often in regions adjacent to transcription factor binding motifs.

    • Kyle Kai-How Farh
    • Alexander Marson
    • Bradley E. Bernstein
    Research
    Nature
    Volume: 518, P: 337-343

  • Analysis of the genomes of 50 species of Lemuriformes shows high levels of genomic diversity, likely due to allele sharing, as well as population declines and inbreeding patterns resulting from ecological factors and human impacts in Madagascar.

    • Joseph D. Orkin
    • Lukas F. K. Kuderna
    • Tomas Marques Bonet
    Research
    Nature Ecology & Evolution
    Volume: 9, P: 42-56

  • Whole-genome alignment of 239 primate species reveals noncoding regulatory elements that are under selective constraint in primates but not in other placental mammals, that are enriched for variants that affect human gene expression and complex traits in diseases.

    • Lukas F. K. Kuderna
    • Jacob C. Ulirsch
    • Kyle Kai-How Farh
    ResearchOpen Access
    Nature
    Volume: 625, P: 735-742

  • Using common variants in six non-human primate species, the authors train a deep neural network that identifies pathogenic mutations in patients with rare disease with 88% accuracy and enables the discovery of 14 new candidate genes in intellectual disability.

    • Laksshman Sundaram
    • Hong Gao
    • Kyle Kai-How Farh
    Research
    Nature Genetics
    Volume: 50, P: 1161-1170

  • In this study, the authors describe the subset of activity-regulated enhancers that modulate transcription in cultured neurons and that participate in the regulation of synaptic maturation. In addition, they demonstrate Fos binding to these enhancers is essential for this activity-dependent regulation of transcription.

    • Athar N Malik
    • Thomas Vierbuchen
    • Michael E Greenberg
    Research
    Nature Neuroscience
    Volume: 17, P: 1330-1339