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ASHG 2010: 1000 Genomes Project Tutorial Videos
This page describes some basic file formats, convenience functions and analysis options for rare copy number variant (CNV) data. Support for common copy number polymorphisms (CNPs) is described here . Copy number variants are represented as segments .
PennCNV: copy number variation detection Welcome! PennCNV is a free software tool for Copy Number Variation (CNV) detection from SNP genotyping arrays.
The Genome Analysis Toolkit or GATK is a software package developed at the Broad Institute to analyse next-generation resequencing data. The toolkit offers a wide variety of tools, with a primary focus on variant discovery and genotyping as well as strong emphasis on data quality assurance.
Assembly This release is based on the NCBI 36 assembly of the human genome [November 2005]. The data consists of a reference assembly of the complete genome plus the Celera WGS and a number of alternative assemblies of individual haplotypic chromosomes or regions.