Results for "calling"
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AIRVF: a filtering toolbox for precise variant calling in Ion Torrent sequencing
AIRVF that works on flowgram, raw and mapped reads and called variants to reduce artifact-driven false variant calls. Tests on sequencing data of standard reference material showed up to ∼98% reduction of false variants when combined to conventional public pipelines and ∼48% to the in-hou...Tags: AIRVF, filtering, toolbox, precise, variant, calling, Ion, Torrent, sequencing
2314 days ago
PureCN: copy number calling and SNV classification using targeted short read sequencing
This package estimates tumor purity, copy number, and loss of heterozygosity (LOH), and classifies single nucleotide variants (SNVs) by somatic status and clonality. PureCN is designed for targeted short read sequencing data, integrates well with standard somatic variant detection and copy number...Tags: PureCN, copy, number, calling, SNV, classification, targeted, short, read, sequencing
2084 days ago
Snippy: Rapid haploid variant calling and core SNP phylogeny
Snippy finds SNPs between a haploid reference genome and your NGS sequence reads. It will find both substitutions (snps) and insertions/deletions (indels). It will use as many CPUs as you can give it on a single computer (tested to 64 cores). It is designed with speed in mind, and produces a cons...Tags: Snippy, Rapid, haploid, variant, calling, core, SNP, phylogeny, bacteria
2013 days ago
FastGT: an alignment-free method for calling common SNVs directly from raw sequencing reads
FastGT is a program package for whole-genome genotyping of genome variants directly from raw sequencing reads. It is written in C and runs in Linux. FastGT uses a list of variant-specific k-mer pairs that are unique in human genome, counts the frequency of k-mers in sequencing data and predicts t...Tags: FastGT, alignment-free, method, calling, common, SNVs, directly, raw, sequencing, reads, alignment-free
1547 days ago
- Variation graphs provide a succinct encoding of the sequences of many genomes. A variation graph (in particular as implemented in vg) is composed of: nodes, which are labeled by sequences and ids edges, which connect two nodes via either of their respective ends paths, describe genomes,...
Tags: VG, variation, graph, structures, interchange, formats, alignment, genotyping, variant, calling, methods, snp
1547 days ago
Best Practices for Variant Calling with the GATK
The presentations below were filmed during the March 2015 GATK Workshop, part of the BroadE Workshop series. At the time of this workshop, the current version of Broad’s Genome Analysis Toolkit (GATK) was version 3.3. Genome Analysis Toolkit 0...Tags: Best, Practices, Variant, Calling, GATK
1522 days ago
