Abstract “Test‐and‐go” single‐nucleotide variation (SNV) detection within several minutes
remains challenging, especially in low‐abundance samples, since existing methods face a …

Alterations in the exonuclease domain of DNA polymerase ε cause ultramutated cancers.
These cancers accumulate AGA> ATA transversions; however, their genomic features …

Cancer immunology offers a new alternative to traditional cancer treatments, such as
radiotherapy and chemotherapy. One notable alternative is the development of personalized …

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 …

高通量测序技术的出现使基因序列得到了广泛研究. 由于遗传物质的复杂性以及在样品准备,
测序和分析过程中引入的技术错误和不同测序平台之间的系统偏差, 导致高通量测序结果在准确 …

Subclonal reconstruction algorithms use bulk DNA sequencing data to quantify parameters
of tumor evolution, allowing an assessment of how cancers initiate, progress and respond to …

Neoplastic tumors originate from a single cell, and their evolution can be traced through
lineages characterized by mutations, copy number alterations, and structural variants. These …

Most neoplastic tumors originate from a single cell, and their evolution can be genetically
traced through lineages characterized by common alterations such as small somatic …

Clonal hematopoiesis (CH) of indeterminate potential (CHIP), driven by somatic mutations in
leukemia-associated genes, confers increased risk of hematologic malignancies …

Detecting structural variants (SVs) in whole-genome sequencing poses significant
challenges. We present a protocol for variant calling, merging, genotyping, sensitivity …