Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline

J Med Genet. 2020 Dec;57(12):859-862. doi: 10.1136/jmedgenet-2019-106794. Epub 2020 Apr 17.
No abstract available

Keywords: molecular genetics.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Endoglin / genetics*
  • Female
  • Genetic Variation / genetics
  • Humans
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mosaicism
  • Pathology, Molecular*
  • Telangiectasia, Hereditary Hemorrhagic / genetics*
  • Telangiectasia, Hereditary Hemorrhagic / pathology
  • Whole Genome Sequencing

Substances

  • ENG protein, human
  • Endoglin
  • Membrane Proteins
  • NHS protein, human