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copy number analysis

Using array comparative genomic hybridization, a team of researchers from the US looked at copy number patterns in dozens of healthy, pre-cancerous, and cancerous skin samples, identifying a recurrent chromosome 10 deletion associated with an aggressive form of skin cancer called cutaneous squamous cell carcinoma.

Researchers from Norway, Belgium, and elsewhere have developed an algorithm for determining allele-specific copy number patterns in tumors from SNP data.

Macrogen will offer services in Korea using CGH/CNV tools from Roche NimbleGen.

The research team analyzed a combination of DNA sequence, copy number, and mRNA expression to identify several genes associated with soft-tissue sarcoma subtypes.

The agreement covers Agilent's Mx3005P qPCR system and Brilliant qPCR reagents and IDT's PrimeTime qPCR assays.

The technique could be used to diagnose diseases such as mental retardation, where copy number variation is a key characteristic, and as a screening tool to look for cancer biomarkers and assess drug effectiveness, the researchers said.

An international consortium has identified rare copy number variants that are more common in individuals on the autism spectrum.

The researchers are combining technologies such as exome sequencing, RNA sequencing, copy number profiling, gene expression analysis, and targeted resequencing to better understand different types of breast cancer tumors and eventually tailor treatment and improve diagnostics.


The Washington Post reports that a Russian Academy of Sciences commission has led to the retraction of hundreds of scientific papers.

The Los Angeles Times' Daily Pilot reports the chief executive of Vantari Genetics has pleaded guilty in a kickback scheme.

News 4 Jax reports that a Florida bill to prevent life and long-term care insurers from using genetic information in their coverage decisions has easily passed one committee.

In Science this week: potentially pathogenic mutations found in hematopoietic stem cells from young healthy donors, and more.