Results for "variants"
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HiCanu, a significant modification of the Canu assembler designed to leverage the full potential of HiFi reads via homopolymer compression, overlap-based error correction, and aggressive false overlap filtering. More at https://www.biorxiv.org/content/10.1101/2020.03.14.992248v3Tags: HiCanu, accurate, assembly, segmental, duplications, satellites, allelic, variants, high-fidelity, long, reads
1499 days ago
- MUM&Co is able to detect:Deletions, insertions, tandem duplications and tandem contractions (>=50bp & <=150kb)Inversions (>=1kb) and translocations (>=10kb)
Tags: MUM&Co, simple, bash, script, Whole, Genome, Alignment, information, MUMmer, detect, variants
739 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
673 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
1559 days ago
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