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.

MM2S 1.0.6 – Personalized Diagnosis of Medulloblastoma Subtypes Across Patients and Model Systems

MM2S 1.0.6

:: DESCRIPTION

The MM2S (Medullo-Model To Subtypes) classifier stratifies single MB gene expression profiles without reference samples or replicates. The pathway-centric approach facilitates subtype predictions of patient samples, and model systems including cell lines and mouse models.

::DEVELOPER

Princess Margaret Bioinformatics and Computational Genomics Laboratory

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Windows/Linux/MacOsX
  • R

:: DOWNLOAD

 MM2S

:: MORE INFORMATION

Citation:

Genomics. 2015 Aug;106(2):96-106. doi: 10.1016/j.ygeno.2015.05.002. Epub 2015 May 12.
Personalized diagnosis of medulloblastoma subtypes across patients and model systems.
Gendoo DM, Smirnov P, Lupien M, Haibe-Kains B

MetaQC 0.1.13 – Quality Control and Diagnosis for Microarray Meta-analysis

MetaQC 0.1.13

:: DESCRIPTION

MetaQC: A diagnosis tool for assessing quality of genomic studies for meta-analysis and determining inclusion/exclusion criteria.

::DEVELOPER

George C. Tseng 

:: SCREENSHOTS

N/A

:: REQUIREMENTS

:: DOWNLOAD

 MetaQC

:: MORE INFORMATION

Citation

Dongwan D. Kang, Etienne Sibille, Naftali Kaminski, and George C. Tseng*. (2011)
MetaQC: Objective Quality Control and Inclusion/Exclusion Criteria for Genomic Meta-Analysis.
Nucl. Acids Res. (2011) doi: 10.1093/nar/gkr1071

RTREE – Classification Trees for Risk Profile and Diagnosis

RTREE

:: DESCRIPTION

RTREE is a program that analyzes relative risk and conducts sib pair linkage analysis using tree-based methods. This program can be executed to automatically generate a tree structure or allow the user to construct a tree of his or her choice.

::DEVELOPER

The Collaborative Center for Statistics in Science(C2S2)

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Windows / Linux /MacOsX

:: DOWNLOAD

 RTREE

:: MORE INFORMATION

Citation:

H.P. Zhang and B. Singer. (1999)
Recursive Partitioning in the Health Sciences,
Springer, New York.