copy number analysis
Ovarian Cancer Detected Early With DNA From Pap Smear in Proof-of-Principle Study
Researchers developed an early ovarian cancer test based on DNA from Pap smears from women who went on to develop high-grade serous ovarian cancer.
Schizophrenia Ties to Mosaic CNVs Suggest Early Developmental Origins of the Disease
Analyzing case-control genotyping profiles, researchers saw somatic copy number changes recurring in two genes in individuals with schizophrenia.
The liquid biopsy assay uses low-pass whole-genome sequencing to screen for copy number alterations in blood, cerebral spinal fluid, and aqueous humor samples.
Spatial Copy Number Variant Maps Shed Light on Clonal Cancer Development
Spatially resolved copy number profiles in malignant and benign tissues across organ types led to the detection of ancestral clones at seemingly cancer-free sites.
UK Biobank Copy Number-Based GWAS Discovers New Associations With Human Traits
Using new CNV analysis tools called CNest, researchers found almost 900 ties between CNVs and phenotypes in exome sequencing data from the UK Biobank.