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.
News Medical

Study reveals association between ribosomal DNA copy number and disease risk

Ribosomal DNA (rDNA) is present in hundreds of copies in the genome, but has not previously been part of genetic analyses. A new study of 500,000 individuals indicates that people who have more copies ...
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 ...
Drug Target Review

Variant or viable target? How resolving complex genomic regions is reshaping rare disease therapeutics

Dr Aaron Wenger reveals how improvements in long-read sequencing technology is enabling the elucidation of complex disease ...