Results for "Variants"
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DISCOVAR is a new variant caller and DISCOVAR de novo a new genome assembler, both designed for state-of-the-art data. Their inputs are chosen to optimize quality while keeping costs low. Currently it takes as input Illumina reads of length 250 or longer — produced on MiSeq or HiSeq 2500 &m...Tags: Bioinformatics, NGS, Assembly, DISCOVAR, Variants, BroadInstitute
2929 days ago
- Call sviper ~$ ./sviper -s short-reads.bam -l long-reads.bam -r ref.fa -c variants.vcf -o polished_variants This will output a polished_variants.vcf file, that contains all the refined variants. Sometimes it is helpful to look at the polished sequence, e.g. with the IGV browser. In...
Tags: SViper, Swipe, Structural, Variants, ONT, PacBio, reads, Illumina
1586 days ago
SVEngine: Allele Specific and Haplotype Aware Structural Variants Simulator
SVEngine (Structural Variants Engine) SVEngine is a multi-purpose and self-contained simulator for whole genome scale spike-in of thousands of SV events of various types in both single-sample and matched sample scenarios. SVEngine takes as input reference contigs in FASTA files, variant meta ...Tags: SVEngine, Allele, Haplotype, Aware, Structural, Variants, Simulator, Simulation
1391 days ago
Resolving the complexity of the human genome using single-molecule sequencing
The human genome is arguably the most complete mammalian reference assembly yet more than 160 euchromatic gaps remain and aspects of its structural variation remain poorly understood ten years after its completion. The results in this paper https://www.genomeweb.com/sequencing/team-uses-single-mo...Tags: variants, human reference genome, structural and sequence variation, genome assembly
3210 days ago
TARDIS: Toolkit for automated and rapid discovery of structural variants
tardis Toolkit for Automated and Rapid DIscovery of Structural variants Requirements zlib (http://www.zlib.net)mrfast (https://github.com/BilkentCompGen/mrfast)htslib (included as submodule; http://htslib.org/)Fetching tardis git clone https://github.com/BilkentCompGen/tardis.git --recursive ...Tags: TARDIS, Toolkit, automated, rapid, discovery, structural, variants
2512 days ago
- Manta calls structural variants (SVs) and indels from mapped paired-end sequencing reads. It is optimized for analysis of germline variation in small sets of individuals and somatic variation in tumor/normal sample pairs. Manta discovers, assembles and scores large-scale SVs, medium-sized indels ...
Tags: Manta, rapid, detection, structural, variants, indels, germline, cancer, sequencing, applications
2159 days ago
NextSV: a meta-caller for structural variants from low-coverage long-read sequencing data
NextSV, a meta SV caller and a computational pipeline to perform SV calling from low coverage long-read sequencing data. NextSV integrates three aligners and three SV callers and generates two integrated call sets (sensitive/stringent) for different analysis purpose. The output of NextSV is in AN...Tags: NextSV, meta-caller, structural, variants, low-coverage, long-read, sequencing, data
2088 days ago
EXCAVATOR: detecting copy number variants from whole-exome sequencing data
EXCAVATOR, for the detection of copy number variants (CNVs) from whole-exome sequencing data. EXCAVATOR combines a three-step normalization procedure with a novel heterogeneous hidden Markov model algorithm and a calling method that classifies genomic regions into five copy number states. We vali...Tags: EXCAVATOR, detect, copy, number, variants, whole-exome, sequencing, data
1938 days ago
SvABA: Genome-wide detection of structural variants and indels by local assembly
SvABA is a method for detecting structural variants in sequencing data using genome-wide local assembly. Under the hood, SvABA uses a custom implementation of SGA (String Graph Assembler) by Jared Simpson, and BWA-MEM by Heng Li. Contigs are assembled for every 25kb window (wi...Tags: SvABA, Genome-wide, detection, structural, variants, indels, local, assembly
1920 days ago
- Validated a widely accessible approach that can be used to establish functional causality for noncoding sequence variants identified by GWASs. https://www.nature.com/articles/nm.3975
Tags: CAUSEL, epigenome, genome, editing, pipeline, function, noncoding, GWAS, variants
1843 days ago
