Introduction

We present DeNovoGear software for analyzing de novo mutations from familial and somatic tissue sequencing data. DeNovoGear uses likelihood-based error modeling to reduce the false positive rate of mutation discovery in exome analysis and fragment information to identify the parental origin of germ-line mutations. We used DeNovoGear on human whole-genome sequencing data to produce a set of predicted de novo insertion and/or deletion (indel) mutations with a 95% validation rate.

Publications

  1. DeNovoGear: de novo indel and point mutation discovery and phasing.
    Cite this
    Ramu A, Noordam MJ, Schwartz RS, Wuster A, Hurles ME, Cartwright RA, Conrad DF, 2013-10-01 - Nature methods

Credits

  1. Avinash Ramu
    Developer

    1] Department of Genetics, Washington University School of Medicine

  2. Michiel J Noordam
    Developer

  3. Rachel S Schwartz
    Developer

  4. Arthur Wuster
    Developer

  5. Matthew E Hurles
    Developer

  6. Reed A Cartwright
    Developer

  7. Donald F Conrad
    Investigator

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Summary
AccessionBT005803
Tool TypeApplication
Category
PlatformsLinux/Unix
TechnologiesC++
User InterfaceTerminal Command Line
Download Count0
Submitted ByDonald F Conrad