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exome

all expressed mRNA in a tissue Notes: - exome sequencing used to identify DHODH defects as the cause of postaxial acrofacial dysostosis [[2]

General

molecular biology

References

  1. Hardy J Genomewide association studies and human disease. N Engl J Med. 2009 Apr 23;360(17):1759-68. Epub 2009 Apr 15. PMID: 19369657
  2. Ng SB et al Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010 Jan;42(1):30-5. Epub 2009 Nov 13 PMID: 19915526