BOL

Mapping reads to a reference genome is an essential step in many types of genomic analysis, such as variant calling and gene expression analysis.

Benchmarking a new metagenomic pipeline often begins with a fundamental challenge. Imagine a bioinformatician preparing to benchmark a new metagenomic pipeline. There is no shortage of real sequencing data, but one problem quickly appears: the exact...

darlinglab.org - Mauve is a system for constructing multiple genome alignments in the presence of large-scale evolutionary events such as rearrangement and inversion. Multiple genome alignments provide a basis for research into comparative genomics and the study of...

github.com - SVfinder provides genome-wide detection of structural variants from next generation paired-end sequencing reads.

github.com - Motivation: Identification of biological specimens is a major requirement for a range of applications. Reference-free methods analyse unprocessed sequencing data without relying on prior knowledge, but these do not scale to arbitrarily large genomes...

github.com - Often, genome assembly projects have illumina whole genome sequencing reads available for the assembled individual. The k-mer spectrum of this read set can be used for independently evaluating assembly quality without the need of a high quality...