Results for "SVS"
Blogs
Structural variation: the hidden genomic treasure
...hort indels. Structural Variations (SVs) and Copy Number Variations (...and analysis. In our lab we analyse SVs/CNVs using high-throughput se...nces. Structural variants (SVs) such as deletions, insertion...chers to catalog a wide spectrum of SVs in many organisms and infer t...2700 days ago
Software and Tools to detect structure variation with long reads !!
...e of single genomes or trios reveals triple the SVs detectable by short-read data...io or Oxford Nanopore). It detects all types of SVs using evidence from split-rea...e instead of "signature" regions Genotyping of SVs with Illumina paired-end read...2605 days ago
Bookmarks
MOSAIK: A Hash-Based Algorithm for Accurate Next-Generation Sequencing Short-Read Mapping
...eletions. To support the growing interest in larger structural variant (SV) discovery, MOSAIK provides explicit support for handling known-sequence SVs, e.g. mobile element insertio...2904 days ago
- ...d segment of the query. We show that YAHA detects more breakpoints in less time than BWA-SW across all SV classes, and especially excels at complex SVs comprising multiple breakpoin...
2659 days ago
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Top-level pages
List of Bioinformatics Software Tools for Next Generation Sequencing
...found in <.05% of the population Input: BAM file input→ suggest running through GATK Output: Manta Description: Calls indels and SVs from paired end reads; standa...2906 days ago
Quick next generation sequencing (NGS) terms definition
...nt reads: briefly, any non-concordant read pair is considered discordant. Note that, by definition, the discordant read pairs signal potential SVs. The sequence signature produ...2520 days ago
Wire posts
ResearchLabs posts
- ...e take have broad connections to a variety of data-intensive fields, within the emerging discipline of data science. Personal Genome Variation: SVs Human Genome Annotation: Pro...
3697 days ago
- ...ratory is focused on the discovery and analysis of structural variation (SVs) from genomic sequence data....of the read depth-of-coverage; (iii) split read analysis, which detects SVs by evaluating gapped sequence...
2990 days ago
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