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  • Chris Mungall, Julie McMurry, +23 authors Melissa Haendel
  • Biology, Computer Science, Medicine
  • Nucleic Acids Res.
  • 2017 (First Publication: 29 November 2016)
  • The correlation of phenotypic outcomes with genetic variation and environmental factors is a core pursuit in biology and biomedicine. Numerous challenges impede our progress: patient phenotypes mayExpand
  • Damian Smedley, Max Schubach, +13 authors Peter N. Robinson
  • Medicine, Biology
  • American journal of human genetics
  • 2016 (First Publication: 1 September 2016)
  • The interpretation of non-coding variants still constitutes a major challenge in the application of whole-genome sequencing in Mendelian disease, especially for single-nucleotide and other smallExpand