ClinLabGeneticist 2.28 – Diagnosis of Pathogenic Variants from WES data

ClinLabGeneticist 2.28

:: DESCRIPTION

ClinLabGeneticist is a tool to assist geneticist for diagnosis of pathogenic variants from WES ( whole exome sequencing) data.

::DEVELOPER

Rong Chen Lab

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Windows

:: DOWNLOAD

 ClinLabGeneticist

:: MORE INFORMATION

Citation

ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.
Wang J, Liao J, Zhang J, Cheng WY, Hakenberg J, Ma M, Webb BD, Ramasamudram-Chakravarthi R, Karger L, Mehta L, Kornreich R, Diaz GA, Li S, Edelmann L, Chen R.
Genome Med. 2015 Jul 29;7(1):77. doi: 10.1186/s13073-015-0207-6.

BALSA 2.0 – GPU Accelerated Integrated WGS and WES Secondary Analysis

BALSA 2.0

:: DESCRIPTION

BALSA is an integrated solution for the secondary analysis of next generation sequencing data; it exploits the computational power of GPU and an intricate memory management to give a fast and accurate analysis.

::DEVELOPER

L3 Bioinformatics Limited

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux
  • GPU

:: DOWNLOAD

 BALSA

:: MORE INFORMATION

Citation

BALSA: integrated secondary analysis for whole-genome and whole-exome sequencing, accelerated by GPU.
Luo R, Wong YL, Law WC, Lee LK, Cheung J, Liu CM, Lam TW.
PeerJ. 2014 Jun 3;2:e421. doi: 10.7717/peerj.421.