Identifying significant differences between individual samples is a key problem in many areas, including diagnostics (tumor development), met- agenomic analysis (differences in sample composition), transcription analysis …
Pan-genome graphs through founder sequences
The main goal is to apply and extend techniques from haplotyping literature to the construction of pan-genome graphs. Given a multiple alignment of pan-genomic references, the founder reconstruction problem is to find a small set…
Efficiently merging compacted de Bruijn graphs
Compacted de Bruijn graphs are natural candidates for representing pan-genome graphs. The problem of constructing compacted de Bruijn graphs has been studied extensively, in both cases where the input is a (set of) genomes or raw …
Graph-based reference to improve quantification of CNV detection in low-coverage data
Growing insights in biomedical research indicates a substantial role of copy number variants (CNVs) in various diseases. CNVs are represented by duplicated or deleted parts of various lengths and can affect multiple genes or change gene dosage, lead to …