CNVs

With panel sequencing data for more than 143,000 individuals, researchers characterized intragenic copy number variants in hundreds of monogenic disease genes.

Investigators identified mutation, expression, and methylation differences in colorectal polyps from individuals with or without colorectal cancer.

An international team of researchers examined the scope and population specificity of copy-number variants affecting genes linked to drug metabolism.

The researchers said that their blood-based ddPCR assay could differentiate men with prostate cancer who have numerous copies of the androgen receptor gene.

Shared gastric adenocarcinoma tumor features seem to span geography and ethnicity, despite shifts in the proportion of tumors from different molecular subtypes.

Copy number changes affecting cancer-related genes appear to be prominent within and across tumors in individuals with colorectal cancer.

Using CNV profiles for more than 40,000 individuals with or without schizophrenia, researchers got a refined look at gains and losses linked to the condition.

A study by researchers in Austria suggests read depth patterns upstream of transcription start sites can provide clues to gene expression.

A re-analysis of non-invasive prenatal testing data from CARE found fewer false-positive cases caused by maternal copy number variants and other factors.