The laboratory is focused on the discovery and analysis of structural variation (SVs) from genomic sequence data. As part of the 1000 Genomes Project and other endeavors, we have helped produce initial fine-scale maps using a variety of SV discovery...
bioinform.github.io - Ultrafast and accurate nucleotide-resolution analysis of structural variants
More at http://bioinform.github.io/breakseq2/
Download BreakSeq2
Latest version: https://github.com/bioinform/breakseq2/archive/2.2.tar.gzFor other versions, see...
github.com - PANDASEQ is a program to align Illumina reads, optionally with PCR primers embedded in the sequence, and reconstruct an overlapping sequence.
More at https://github.com/neufeld/pandaseq
www.exelixis-lab.org - PEAR is an ultrafast, memory-efficient and highly accurate pair-end read merger. It is fully parallelized and can run with as low as just a few kilobytes of memory.
PEAR evaluates all possible paired-end read overlaps and without requiring the...
sfu-compbio.github.io - SCALCE (/skeɪlz/, a.k.a. boosting Sequence Compression Algorithms using Locally ConsistentEncoding) is a tool for compressing FASTQ files. It is designed specifically for the Illumina-generated FASTQ files, but supports any...
bioinf.spbau.ru - SPAdes – St. Petersburg genome assembler – is intended for both standard isolates and single-cell MDA bacteria assemblies. This manual will help you to install and run SPAdes. SPAdes version 3.7.1 was released under GPLv2 on March 8,...
http://busco.ezlab.org/ - High-throughput genomics has revolutionized biological research, however, while the number of sequenced genomes grows by the day, quality assessment of the resulting assembled sequences remains complicated and mostly limited to technical measures...
mrfast.sourceforge.net - mrFAST is a read mapper that is designed to map short reads to reference genome with a special emphasis on the discovery of structural variation and segmental duplications. mrFAST maps short reads with respect to user defined error threshold,...