High-throughput sequencing, also known as next-generation sequencing (NGS), has
revolutionized genomic research. In recent years, NGS technology has steadily improved …

Chromatin immunoprecipitation experiments followed by sequencing (ChIP–seq) detect
protein–DNA binding events and chemical modifications of histone proteins. Challenges in …

Motivation: Fast and accurate quality control is essential for studies involving next-
generation sequencing data. Whilst numerous tools exist to quantify QC metrics, there is no …

DNA methylation is an important epigenetic modification involved in gene regulation, which
can now be measured using whole-genome bisulfite sequencing. However, cost, complexity …

Background Whole exome sequencing studies identify hundreds to thousands of rare
protein coding variants of ambiguous significance for human health. Computational tools are …

New sequencing technologies pose significant challenges in terms of data complexity and
magnitude. It is essential that efficient software is developed with performance that scales …

TP53 mutations are strong predictors of poor survival and refractoriness in chronic
lymphocytic leukemia (CLL) and have direct implications for disease management. Clinical …

Demand for fast, inexpensive, and accurate DNA sequencing data has led to the birth and
dominance of a new generation of sequencing technologies. So-called “next-generation” …

Error Correction is important for most next-generation sequencing applications because
highly accurate sequenced reads will likely lead to higher quality results. Many techniques …

Background A feature common to all DNA sequencing technologies is the presence of base-
call errors in the sequenced reads. The implications of such errors are application specific …