Technological advances have led to the introduction of next-generation sequencing (NGS)
platforms in cancer investigation. NGS allows massive parallel sequencing that affords …

Accumulating evidence indicates that DNA copy number variation (CNV) is likely to make a
significant contribution to human diversity and also play an important role in disease …

Copy number variation (CNV) has been found to play an important role in human disease.
Next‐generation sequencing technology, including whole‐genome sequencing (WGS) and …

Background Recently copy number variation (CNV) has gained considerable interest as a
type of genomic/genetic variation that plays an important role in disease susceptibility …

Single-cell and spatial transcriptome sequencing, two recently optimized transcriptome
sequencing methods, are increasingly used to study cancer and related diseases. Cell …

Background Detecting somatic mutations in whole exome sequencing data of cancer
samples has become a popular approach for profiling cancer development, progression and …

Changes in gene copy number are important in the setting of precision medicine. Recent
studies have established that copy number alterations (CNAs) can be detected in …

The identification of mutations that guide therapy selection for patients with cancer is now
routine in many clinical centres. The majority of assays used for solid tumour profiling use …

Context.—Next-generation sequencing (NGS) is revolutionizing the discipline of laboratory
medicine, with a deep and direct impact on patient care. Although it empowers clinical …

The rational treatment of metastatic NSCLC hinges on the timely detection of potentially
targetable genomic alterations to guide therapy. Recent advances in highly sensitive …