A Johns Hopkins team reported its finding in JAMA Cardiology, backed by SNP array data from 21,870 participants culled from several large cardiovascular studies.
An international team of researchers has developed an assay to detect chromosome 1q21.3 amplifications that are markers of breast cancer recurrence.
Copy number alterations in red blood cell invasion receptor-related genes that are more common in some African populations appear to protect against severe malaria.
The researchers said that their blood-based ddPCR assay could differentiate men with prostate cancer who have numerous copies of the androgen receptor gene.
The researchers believe that by monitoring mtDNA copy number in blood, they will be able to identify people at risk for developing CHD who could benefit from preventative efforts.
An analysis of copy number changes and genomic rearrangements in more than 100 tumors suggests chromothripsis may contribute to pancreatic cancer evolution.
The findings, published last week, have prompted Belgian medical genetics centers to routinely report maternal incidental findings from NIPT.
The study found that combining whole-genome expression or genome-wide methylation data with clinical data improves survival predictions in breast cancer cases.
Diploid is focusing first on CNV analysis, annotation, and interpretation and plans to launch at least one more product for the space this year.
Three duplications appear to affect HOXB8 expression levels in the facial skin of chickens to give them a bearded look, researchers have found.
Using DNA to sketch crime victims might not be a great idea, the NYTimes says.
Science has its own problem with sexual harassment. What do we do with the research these abusers produce, Wired asks.
Senate Republicans led by Senator Rand Paul (R-KY) are trying to change how the government funds basic research, reports ScienceInsider.
In Science this week: combining genomics and ecology to better understand the effects of natural selection on evolution, and more.