Motivation Large-scale rearrangements and copy number changes combined with different
modes of clonal evolution create extensive somatic genome diversity, making it difficult to …

Motivation Somatic evolution plays a key role in development, cell differentiation, and
normal aging, but also diseases such as cancer, which is now mainly thought of as a …

Almost all haplotype-based variant callers were designed specifically for detecting common
germline variation in diploid populations, and give suboptimal results in other scenarios …

Most computational methods that infer somatic copy number alterations (SCNAs) from bulk
sequencing of DNA analyse tumour samples individually. However, the sequencing of …

Single-cell RNA and ATAC sequencing technologies enable the examination of gene
expression and chromatin accessibility in individual cells, providing insights into cellular …

Most computational methods that infer somatic copy number alterations (SCNAs) from bulk
sequencing of DNA analyse tumour samples individually. However, the sequencing of …

We describe Strelka2 (https://github. com/Illumina/strelka), an open-source small variant
calling method for clinical germline and somatic sequencing applications. Strelka2 …

Background High-throughput sequencing (HTS) has become the gold standard approach for
variant analysis in cancer research. However, somatic variants may occur at low fractions …

The adoption of next generation sequencing based methods in cancer research allowed for
the investigation of the complex genetic structure of tumor samples. In the last few years …

Somatic copy number variations (CNVs) play a crucial role in development of many human
cancers. The broad availability of next-generation sequencing data has enabled the …