TrioCNV 0.1.2 – Joint Detection of Copy Number Variations in Parent-offspring Trios

TrioCNV 0.1.2

:: DESCRIPTION

TrioCNV is a tool designed to jointly detecting CNVs from WGS data in parent-offspring trios.

::DEVELOPER

yzhuangliu@gmail.com

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Windows / Linux
  • R
  • JRE

:: DOWNLOAD

 TrioCNV

:: MORE INFORMATION

Citation

Joint detection of copy number variations in parent-offspring trios.
Liu Y, Liu J, Lu J, Peng J, Juan L, Zhu X, Li B, Wang Y.
Bioinformatics. 2015 Dec 7. pii: btv707.

mirTrios – Detection of de novo and rare inherited Mutations from Trios-based NGS

mirTrios

:: DESCRIPTION

mirTrios was developed for identification and comprehensive analysis the de novo and rare inherited variants with one or multiple trios samples based on high-throughput sequencing data starting from a VCF file (version 4). It uses reference gene definitions and hg19 genomic coordinates for annotation.

::DEVELOPER

mirTrios team

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux
  • JDK

:: DOWNLOAD

 mirTrios

:: MORE INFORMATION

Citation

mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing.
Li J, Jiang Y, Wang T, Chen H, Xie Q, Shao Q, Ran X, Xia K, Sun ZS, Wu J.
J Med Genet. 2015 Apr;52(4):275-81. doi: 10.1136/jmedgenet-2014-102656.

Triodenovo 0.04 – A Bayesian framework for de novo Mutation Calling in Parents-offspring Trios

Triodenovo 0.04

:: DESCRIPTION

The program triodenovo implemented a Bayesian framework for calling de novo mutations in trios for next-generation sequencing data.

::DEVELOPER

Computational Genetics and Genomics Lab, Vanderbilt University School of Medicine.

:: SCREENSHOTS

N/A

::REQUIREMENTS

  • Linux

:: DOWNLOAD

 Triodenovo

:: MORE INFORMATION

Citation

Bioinformatics. 2014 Dec 21. pii: btu839.
A Bayesian framework for de novo mutation calling in parents-offspring trios.
Wei Q, Zhan X, Zhong X, Liu Y, Han Y, Chen W, Li B