For better experience, turn on JavaScript!

SegCNV
Home » Tools » CNV Tools » SegCNV

SegCNV

A tool for the detection of copy number variation (CNV) in single nucleotide polymorphism (SNP) arrays, particularly designed for germline data. SegCNV supports Illumina 550K and 610K genotyping platforms. The algorithm uses log R ratios (LRR) and B allele frequencies (BAF) for the detection.



SegCNV

A tool for the detection of copy number variation (CNV) in single nucleotide polymorphism (SNP) arrays, particularly designed for germline data. SegCNV supports Illumina 550K and 610K genotyping platforms. The algorithm uses log R ratios (LRR) and B allele frequencies (BAF) for the detection.

Topic

Genotype and phenotype; DNA polymorphism; Genetics; DNA mutation

Details

  • Operation: Copy number estimation
  • Software interface: Command-line user interface
  • Language: C++
  • Operating system: Linux
  • License: Other
    • Cost: Free
  • Version name: -
    • Maturity: Stable
  • Credit: The Intramural ResearchProgram, Division of Cancer Epidemiology and Genetics, National Cancer Institute at the National Institutes of Health, Autism Genetic Resource Exchange (AGRE) Con-sortium and the participating AGRE families, the Biowulf Linux cluster at the National Institutes of Health, Bethesda, MD.
  • Contact: jianxin.shi _at_ nih.gov
  • Collection: -

Publications

Shi J, Li P "An integrative segmentation method for detecting germline copy number variations in SNP arrays." Genet Epidemiol. 2012 May;36(4):373-83. https://doi.org/10.1002/gepi.21631
PMID: 22539397


Download and documentation







If you find errors, please report here.

SECTIONS

Tutorials
In-house software
Blog
News
Find Jobs
History
Definition of Bioinformatics
ENCYCLOPEDIA
COVID-19
⚬ Timeline of outbreak
⚬ Blog
⚬ Scientific Facts
⚬ Daily statistics
⚬ News


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

Find thousands of Bioinformatics and Life Science software tools and databases in the newly launched




Ads