Genetics in Medicine Open (Jan 2024)

P293: Long read sequencing analysis of 120 samples with known and challenging-to-detect clinical variants

  • Joseph Devaney,
  • Jessica Noya,
  • April Berlyoung,
  • Aaron Johnson,
  • Julianna Spangler,
  • Rhonda Brandon,
  • Kathleen Hruska,
  • Lucas Lochovsky,
  • Egor Dolzhenko,
  • Xiao Chen,
  • Michael Eberle,
  • Alexander Robertson,
  • Paul Kruszka,
  • Gustavo Stolovitzky,
  • Scott Newman

Journal volume & issue
Vol. 2
p. 101189

Abstract

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