Mercury

Mercury is a pipeline for detection of homozygous/hemizygous copy number variation (CNV) in data from Mendelian disease cohorts. Mercury uses the algorithm implemented in HMZDelFinder (see links).

Topic

Genetic variation

Details

Operation: Copy number estimation; Genotyping; Variant calling
Software interface: Command-line user interface, web user interface
Language: Ruby
Operating system: Mac OS X, Linux; Microsoft Windows
License: Other

Cost

Version name: 3.2.1

Maturity:

Credit: The National Human Genome Research Institute/National Heart Lung and Blood Institute, National Institute of Neurological Disorders and Stroke, all Institutes of the United States National Institutes of Health, Polish National Science Centre, the Cancer Prevention & Research Institute of Texas training Program.
Contact: James R. Lupski jlupski _at_ bcm.edu
Collection: HMZDelFinder

Publications

Gambin T, Akdemir ZC, Yuan B, Gu S, Chiang T, Carvalho CMB, Shaw C, Jhangiani S, Boone PM, Eldomery MK, Karaca E, Bayram Y, Stray-Pedersen A, Muzny D, Charng WL, Bahrambeigi V, Belmont JW, Boerwinkle E, Beaudet AL, Gibbs RA, Lupski JR "Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort." Nucleic Acids Res. 2017 Feb 28;45(4):1633-1648. https://doi.org/10.1093/nar/gkw1237
PMID: 27980096
PMCID: PMC5389578

Download and documentation

Source: ftp://ftp.hgsc.bcm.edu/../Software/Mercu
ry/Hg3.2.1.tar.gz
Documentation: ftp://ftp.hgsc.bcm.edu/../Software/Mercu
ry/Mercury_Pipeline_Documentation.doc
Home page: https://www.hgsc.bcm.edu/software/mercur
y
Links: /tools/cnv/descriptions/HMZDelFinder.htm
l

Mercury

Mercury

Topic

Details

Publications

Download and documentation

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TOOLS

1. SNP Tools

2. GWAS Tools

3. Genotype Imputation Tools

4. MSA tools

5. CNV tools

6. WGA tools

7. RNA-seq tools

8. Proteomics Tools

9. Nucleic Acid Structure Analysis Tools

10. Nucleic Acid Sequence Analysis Tools

11. Sequence Logo Tools

12. In-house Software Tools