Next generation sequencing technologies for rare Mendelian disorders: striking potential and ongoing challenges

Mol Cell Probes. 2015 Oct;29(5):259. doi: 10.1016/j.mcp.2015.08.001. Epub 2015 Aug 6.
No abstract available

Publication types

  • Editorial

MeSH terms

  • Genetic Testing
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Rare Diseases / genetics*
  • Sequence Analysis, DNA / methods