1000 Genomes data tutorial at ASHG
Structural variants presentation by
Jan Korbel
European Molecular Biology Laboratory (EMBL) Heidelberg Genome Biology Research...
nemo2.sourceforge.net - A recombination map has been added for all multi-locus traits. The map positions (chromosomal) for neutral markers (e.g. SNPs) and loci under selection (QTLs, deleterious mutations, DMIs) can now be specified explicitly, or set at random....
github.com - Software package for signal-level analysis of Oxford Nanopore sequencing data. Nanopolish can calculate an improved consensus sequence for a draft genome assembly, detect base modifications, call SNPs and indels with respect to a reference genome...
github.com - LINKS is a genomics application for scaffolding genome assemblies with long reads, such as those produced by Oxford Nanopore Technologies Ltd. It can be used to scaffold high-quality draft genome assemblies with any long sequences (eg. ONT reads,...
King Abdullah University of Science and Technology (KAUST) (kaust.edu.sa) is seeking a highly motivated and skilled faculty member for the Bioinformatics track whose research focuses on development of methods and tools for Bioinformatics and...
Structural variants (SVs) such as deletions, insertions, duplications, inversions and translocations litter genomes and are often associated with gene expression changes and severe phenotypes (ie. genetic diseases in humans).
github.com - odgi provides an efficient and succinct dynamic DNA sequence graph model, as well as a host of algorithms that allow the use of such graphs in bioinformatic analyses.
Careful encoding of graph entities allows odgi to efficiently...
There are numerous genome assembly tools available, each with its strengths and weaknesses. Here is a list of some widely used genome assembly tools as of my last update in September 2021:
SPAdes: An assembler specifically designed for...
chibba.agtec.uga.edu - MCscan is a computer program that can simultaneously scan multiple genomes to identify homologous chromosomal regions and subsequently align these regions using genes as anchors. This is the toolset for generating the synteny correspondences...