Genetic and Epigenetic Fine-Mapping of Causal Autoimmune Disease Variants

  title={Genetic and Epigenetic Fine-Mapping of Causal Autoimmune Disease Variants},
  author={Kyle Kai-How Farh and Alexander Marson and Jiang Zhu and Markus Kleinewietfeld and William J. Housley and Samantha P. Beik and Noam Shoresh and Holly J. Whitton and Russell J. H. Ryan and Alexander A. Shishkin and Meital Hatan and Marlene J. Carrasco-Alfonso and D. Luisa Mayer and Chance John Luckey and Nikolaos A. Patsopoulos and Philip L De Jager and Vijay K Kuchroo and Charles B. Epstein and Mark J. Daly and David A. Hafler and Bradley E. Bernstein},
Genome-wide association studies have identified loci underlying human diseases, but the causal nucleotide changes and mechanisms remain largely unknown. Here we developed a fine-mapping algorithm to identify candidate causal variants for 21 autoimmune diseases from genotyping data. We integrated these predictions with transcription and cis-regulatory element annotations, derived by mapping RNA and chromatin in primary immune cells, including resting and stimulated CD4+ T-cell subsets… CONTINUE READING
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