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Effectiveness of machine learning at modeling the relationship between Hi-C data and copy number variation

Copy number variation (CNV) refers to an increase or decrease in the number of copies of a DNA sequence in a genome, which can subsequently be implicit in promoting aberrant gene expression patterns ...
Nature

Amylase Gene Copy Number Variation and Its Impact on Obesity and Diabetes

The amylase gene family, particularly AMY1, exhibits extensive copy number variation (CNV) that modulates salivary amylase production and, consequently, the efficiency of dietary starch digestion.
ascopubs.org

Detection of Copy-Number Variation in Circulating Cell-Free DNA in Patients With Uveal Melanoma

Association of Timely Comprehensive Genomic Profiling With Precision Oncology Treatment Use and Patient Outcomes in Advanced Non–Small-Cell Lung Cancer Somatic chromosomal alterations, particularly ...
ascopubs.org

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 ...