Tags: DeepVariant, analysis, pipeline, deep, neural, network, genetic, variants, next-generation, DNA, sequencing, data
1604 days ago
vt: a variant tool set that discovers short variants from Next Generation Sequencing data.
vt is a variant tool set that discovers short variants from Next Generation Sequencing data. https://genome.sph.umich.edu/wiki/Vt https://github.com/atks/vtTags: vt, variant, tool, discovers, short, variants, Next, Generation, Sequencing, data
1601 days ago
SeqMule: Automated human exome/genome variants detection
SeqMule takes single-end or paird-end FASTQ or BAM files, generates a script consisting of more than 10 popular alignment, analysis tools and runs the script line by line. Users can change the pipeline or fine-tune the parameters by modifying its configuration file.Tags: SeqMule, Automated, human, exome, genome, variants, detection
1580 days ago
Tags: HiCanu, accurate, assembly, segmental, duplications, satellites, allelic, variants, high-fidelity, long, reads
1541 days ago
Tags: MUM&Co, simple, bash, script, Whole, Genome, Alignment, information, MUMmer, detect, variants
781 days ago
JASMINE: Jointly Accurate Sv Merging with Intersample Network Edges
This tool is used to merge structural variants (SVs) across samples. Each sample has a number of SV calls, consisting of position information (chromosome, start, end, length), type and strand information, and a number of other values. Jasmine represents the set of all SVs across samples as a netw...Tags: JASMINE, Accurate, SV, Merging, Intersample, Network, Edges, structural, variants
715 days ago
MALVA: Genotyping by Mapping-free ALlele Detection of Known VAriants
MALVA is able to genotype multi-allelic SNPs and indels without mapping reads MALVA calls correctly more indels than the most widely adopted genotyping pipelines Mapping-free approaches are as accurate as alignment-based ones, while being faster More at https://www.sciencedirect.com/scien...Tags: MALVA, Genotyping, Mapping-free, ALlele, Detection, Known, VAriants, snp
1601 days ago