Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar

Circ Cardiovasc Genet. 2013 Aug;6(4):427-34. doi: 10.1161/CIRCGENETICS.113.000085. Epub 2013 Jul 14.
No abstract available

Keywords: Massively-Parallel Sequencing; cardiomyopathies; cardiomyopathy, dilated; connectin; exome; genetics; humans.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cardiomyopathies / diagnosis*
  • Cardiomyopathies / genetics
  • Connectin / genetics
  • DNA Copy Number Variations
  • Dystrophin / genetics
  • Exome
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Mutation

Substances

  • Connectin
  • Dystrophin
  • TTN protein, human