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copy number analysis

Four genome sequencing and comparison studies are offering insights into the various strategies that plant pathogens have devised for infecting their hosts.

By genotyping more than 1,000 individuals with anorexia nervosa and almost 4,000 unaffected controls, researchers have identified common SNPs and rare CNVs that appear to be linked to the condition.

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.


Master's and doctoral students in the UK call on funding groups to extend their grants for the duration of the disruption caused by the COVID-19 outbreak, the Guardian reports.

Squid can make edits to their RNA within the cytoplasm of their axons, Science News reports.

The Chan Zuckerberg Initiative is putting $25 million toward COVID-19 treatment research, according to the Verge.

In Science this week: researchers engineer version of Cas9 that is nearly PAM-less, and more.