Results for "region"
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VariantBam: Filtering and profiling of next-generational sequencing data using region-specific rules
...may not want to store an entire BAM on disk. In many cases, it would be more efficient to store only those read-pairs or reads who intersect some region around the variant locations....2051 days ago
BAUM – Improving Genome Assembly by Adaptive Unique Mapping and Local Overlap-Layout-Consensus
BAUM, breaks the whole genome into regions by adaptive unique mapping; then the local OLC is used to assemble each region in parallel. BAUM can: (1) pe...2031 days ago
regioneR: an R package for the management and comparison of genomic regions
Regioner is an R package for the management and comparison of genomic regions. It offers a set of function for basic manipulation of region sets extending the functional...ble to study the association of a set of regions with other sets of regions,...1984 days ago
SvABA: Genome-wide detection of structural variants and indels by local assembly
...aph Assembler) by Jared Simpson, and BWA-MEM by Heng Li. Contigs are assembled for every 25kb window (with some small overlap) for every region in the genome. The default is...1942 days ago
HumCFS: a database of fragile sites in human chromosomes
Fragile sites are specific chromosomal region that exhibit an increased frequency o...rom the discovery of chromosomal fragile sites/regions (CFS), several line of evide...ere is large gap in our knowledge of human CFS region as knowledge about CFS are un...1852 days ago
mosdepth: fast BAM/CRAM depth calculation for WGS, exome, or targeted sequencing
...ven a window size--as would be used for CNV calling.the mean per-region given a BED file of regions.a distribution of proportion...e.g. (10-20)threshold output to indicate how many bases in each region are covered at the given thre...1643 days ago
SvABA: Structural variation and indel detection by local assembly
...aph Assembler) by Jared Simpson, and BWA-MEM by Heng Li. Contigs are assembled for every 25kb window (with some small overlap) for every region in the genome. The default is...1529 days ago
Mercator: Multiple Whole-Genome Orthology Map Construction
...The term "syntenic" is often used to describe regions of multiple genomes that are believed to have evolved from the same region in an ancestral genome. Howev...would like to identify all orthologous genomic regions as well as paralogous region...1458 days ago
- ...sample relative to a reference genome. These structural variants cover large deletion events that are called as Deletions of a region, Insertions of a sequence into a region, Duplications of a region, In...
1449 days ago
DADA2: Fast and accurate sample inference from amplicon data with single-nucleotide resolution
...the DADA2 workflow identifies and verifiably removes primers on both ends of each ITS read, a key step due to the variable length of the ITS region. Short demonstrations of&nbs...1283 days ago
