Distilling biologically meaningful information from cancer genome sequencing data requires
comprehensive identification of somatic alterations using rigorous computational methods …

Summary The precisionFDA Truth Challenge V2 aimed to assess the state of the art of
variant calling in challenging genomic regions. Starting with FASTQs, 20 challenge …

Single-cell sequencing has gained popularity in recent years. Despite its numerous
applications, single-cell DNA sequencing data is highly error-prone due to technical biases …

Identification of somatic mutations in tumor samples is commonly based on statistical
methods in combination with heuristic filters. Here we develop VarNet, an end-to-end deep …

Background The cancer genome is commonly altered with thousands of structural
rearrangements including insertions, deletions, translocation, inversions, duplications, and …

Peripheral T-cell lymphoma (PTCL) is a rare, heterogenous malignancy with dismal
outcomes at relapse. Hypomethylating agents (HMA) have an emerging role in PTCL …

Background Accurate detection of somatic mutations is challenging but critical in
understanding cancer formation, progression, and treatment. We recently proposed …

Accurate and robust somatic mutation detection is essential for cancer treatment, diagnostics
and research. Various analysis pipelines give different results and thus should be …

Accurate detection of somatic structural variation (SV) in cancer genomes remains a
challenging problem. This is in part due to the lack of high-quality, gold-standard datasets …

Most of the hundreds of citrus varieties are derived from spontaneous mutations. We
characterized the dynamics of single‐nucleotide mosaicism in a 36‐yr‐old clementine …