github.com - MUM&Co is able to detect:Deletions, insertions, tandem duplications and tandem contractions (>=50bp & <=150kb)Inversions (>=1kb) and translocations (>=10kb)
scilifelab.github.io - SciLifeLab is a national center for molecular biosciences with focus on health and environmental research.
Courses
Old courses (2012-2014)
Metagenomics Workshop
2015 November - Uppsala2016 November - Uppsala2017 November - Uppsala
Introduction...
hgdownload.cse.ucsc.edu - This directory contains Genome Browser and Blat application binaries built for standalone command-line use on various supported Linux and UNIX platforms. To determine which set of binaries to download, type "uname -a" on the command line to display...
eforge.cs.ucl.ac.uk - The eFORGE tool provides a method to view the tissue specific regulatory component of a set of EWAS DMPs. eFORGE analysis takes a set of DMPs, such as those hits above genome-wide significance threshold in an EWAS study, and analyses whether there...
minia.genouest.org - Minia is a short-read assembler based on a de Bruijn graph, capable of assembling a human genome on a desktop computer in a day. The output of Minia is a set of contigs. Minia produces results of similar contiguity and accuracy to other de Bruijn...
github.com - Requirements:
velvet (velveth velvetg should be in your PATH)
R (with Sweave)
pdflatex (usually part of TeTeX)
ggplot2 (from R prompt type install.packages("ggplot2","proto","xtable"))
Perl
Optional:
BLAT or BLAST (to generate...
github.com - The automated reconstruction of genome sequences in ancient genome analysis is a multifaceted process.
EAGER encompasses both state-of-the-art tools for each step as well as new complementary tools tailored for ancient DNA data within a single...
bioinformatics.oxfordjournals.org - Summary: Mate pair library sequencing is an effective and economical method for detecting genomic structural variants and chromosomal abnormalities. Unfortunately, the mapping and alignment of mate pair read pairs to a reference genome is a...
garm-meta-assem.sourceforge.net - The pipeline is based mainly implemented using Perl scripts and modules and third-party open source software like the AMOS (Myers et al., 2000) and MUMmer (Kurtz et al., 2004) packages. The pipeline was tested on Debian, Ubuntu, Fedora and BioLinux...
github.com - quickmerge uses a simple concept to improve contiguity of genome assemblies based on long molecule sequences, often with dramatic outcomes. The program uses information from assemblies made with illumina short reads and PacBio long reads to improve...