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Assessing the Detection Power of Genome-Wide Copy Number Variation Profiles in Prostate Cancer Using Simulated Shallow Whole-Genome Sequencing Data

SNF-CLIMEDIN: A Randomized Trial of Digital Support and Intervention in Patients With Advanced Non–Small Cell Lung Cancer. A Hellenic Cooperative Oncology Group Study Shallow whole-genome sequencing ...
Nature

Tumor cell enrichment by tissue suspension improves sensitivity to copy number variation in diffuse gastric cancer with low tumor content

The detection of copy number variations (CNVs) and somatic mutations in cancer is important for the selection of specific drugs for patients with cancer. In cancers with sporadic tumor cells, low ...
Nature

Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis

Cockayne syndrome (CS), first described in 1936 1, is a rare autosomal recessive (AR) disorder characterized by failure to thrive, developmental delay, and microcephaly, along with at least three of ...