Calculating rfPred scores with package rfPred

نویسندگان

  • Hugo Varet
  • Fabienne Jabot-Hanin
  • Jean-Philippe Jais
چکیده

Exome sequencing is becoming a standard tool for gene mapping of monogenic diseases. Given the vast amount of data generated by Next Generation Sequencing techniques, identification of disease causal variants is like finding a needle in a haystack. The impact assessment and the prioritization of potential pathogenic variants are expected to reduce work in biological validation, which is long and costly.

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تاریخ انتشار 2013