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April 01, 2014 (Vol. 34, No. 7)

Discovering Causal Disease Genes with NGS

Software Pipeline for Gene Candidate Identification

  • The past decade has seen accelerated discovery of the causal genes underlying Mendelian and complex diseases as well as progress toward the goal of personalized medicine. Technological achievements including the human genome sequence, the collection of millions of marker single nucleotide polymorphisms (SNPs), and microarrays have allowed the ...

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