Results for "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...2766 days ago
- ...genomic revolution to inspect and understand variants, expression patterns, evoluti...e to the other, going through not one but two variants, for the first time showing t...Thus, Ribbon enables understanding of complex variants, and it may also help in the...
2747 days ago
- ...alignments in the ALN format. ART can also generate alignments in the SAM alignment or UCSC BED file format. ART can be used together with genome variants simulators (e.g. VarSim) for...
2733 days ago
Maq: Mapping and Assembly with Quality
...ad page. Copy maq, maq.pl and maq_eval.pl to the $PATH or to the same directory. Simulate diploid reference and read sequences, map reads, call variants and evaluate the results in o...2715 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. Unfortunately, the mapping and alig...2692 days ago
- ...phylogenetic trees. Tools Parsnp - Core-genome alignment and analysis Gingr - Interactive visualization of alignments, trees and variants HarvestTools - Archivin...
2644 days ago
- ...ion Annotation Format (MAF) is being widley accepted and used to store variants detected. The Cancer Genome A...h cancer type being over 200. The resulting data consisting of genetic variants is stored in the form of Muta...
2628 days ago
Strand Life Sciences announces the release of Strand NGS v3.1 at ASHG 2017
...fication of custom UMI protocols. “For liquid biopsies and low-grade FFPE samples, UMI support in DNA-Seq enables the detection of somatic variants at low concentrations. In RNA...2380 days ago
PBSuite: Software for Long-Read Sequencing Data from PacBio
...g reads (i.e., greater than 10,000 bp). PBHoney considers both intra-read discordance and soft-clipped tails of long reads to identify structural variants.2617 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 lin...2609 days ago
