The NxClinical software integrates copy number, sequence variant, and allelic change information obtained from microarray and NGS technologies.
Fluidigm will provide DNA Software's CopyCount-CNV software for use with its Biomark HD system for copy number variation analysis.
Using a new machine-learning approach, researchers from the Sanford Burnham Prebys Medical Discovery Institute analyzed brain cells obtained from mice during neurogenesis.
The approach, published this week in Cell Reports, could be used more generally to discover disease genes in other cancer types.
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 data generated by 100,000 Genomes Project is being housed on military servers due to attacks by hackers, Naked Security reports.
A new poll finds most US adults are not familiar with personalized medicine, according to HealthDay.
Vox reports that the United Nations' Convention on Biological Diversity decided against a gene drive moratorium.
In Science this week: sequencing of neuroblastomas uncovers alterations linked to prognosis, and more.