The company plans to launch a single-cell CNV assay, a single cell ATAC-seq assay, and a single-cell feature barcoding assay later this year.
Researchers traced clonal populations with shared copy number profiles back to their location in tissue samples, confirming patterns that may have clinical relevance.
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.
In an against-all-odds twist, a researcher studying exceeding rare FOXG1 mutations discovers her daughter has the syndrome.
An effort by Genomics Medicine Ireland is creating a database of diseases based on the genomics of people in Ireland. It now is looking into the possibility of including Scotland in its work.
In recent weeks, the direct-to-consumer genetics firm has rolled out a health hub where customers can share information concerning 18 common health conditions.
In PLOS this week, new genes associated with prostate cancer risk, genetic patterns in M. bovis, and more.