Results for "Rare variants"
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The accurate description and annotation of structural variants can be complex. This is due to the different resolution that variants are reported from traditional...2765 days ago
- Visualization has played an extremely imp...revolution to inspect and understand variants, expression patterns, evoluti...other, going through not one but two variants, for the first time showing t...bon enables understanding of complex variants, and it may also help in the...
2745 days ago
- ART is a set of simulation tools to generate synthetic next-generation sequencing r...he SAM alignment or UCSC BED file format. ART can be used together with genome variants simulators (e.g. VarSim) for...
2732 days ago
Maq: Mapping and Assembly with Quality
Maq stands for Mapping and Assembly with Quality It builds assembly...ame directory. Simulate diploid reference and read sequences, map reads, call variants and evaluate the results in o...2713 days ago
BIMA V3: an aligner customized for mate pair library sequencing
Summary: Mate pair library sequencing is an effective and economical method for detecting genomic structural variants and chromosomal abnormalities...2690 days ago
- Harvest is a suite of core-genome alignment and visualization tools for quickly ana...and analysis Gingr - Interactive visualization of alignments, trees and variants HarvestTools - Archivin...
2643 days ago
- maftools - An R package to summarize, analyze and visua...t (MAF) is being widley accepted and used to store variants detected. The Cancer Genome A...over 200. The resulting data consisting of genetic variants is stored in the form of Muta...
2627 days ago
Strand Life Sciences announces the release of Strand NGS v3.1 at ASHG 2017
Strand Life Sciences announces the release of Strand NGS v3.1 at ASHG 2017 ORLANDO...ow-grade FFPE samples, UMI support in DNA-Seq enables the detection of somatic variants at low concentrations. In RNA...2378 days ago
PBSuite: Software for Long-Read Sequencing Data from PacBio
PBJelly - the genome upgrading tool. PBHoney - the structural variation discov...a-read discordance and soft-clipped tails of long reads to identify structural variants.2616 days ago
- This project contains scripts and tutorials on how to assemble individual microbial genomes from metagenomes, as described in: Genome sequences of rare, un...
2612 days ago
