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CNVs

Functional enhancers can accompany oncogenes on the circularized extrachromosomal amplicons found in glioma and other tumors, enhancing cancer growth.

This report contains a quantitative, evidence-based scoring framework to help guide the evaluation of constitutional CNVs across clinical labs.

Researchers uncovered examples of potentially beneficial copy number variants introgressed from Neanderthals and Denisovans under positive selection in Melanesians.

Euformatics, EMQN, and GenQA will extend prior work on the development of an external quality assessment technical scheme for NGS-based clinical testing.

At Belgium's VIB, researchers have designed custom panels with CNV detection in mind to get better data on single-cell genomic changes during cancer treatment.

In Genome Research this week: copy number variant analysis of Anopheles gambiae, comparison of approaches to predict transcription factor activity, and more.

In Genome Biology this week: methylation and gene expression profiles in schizophrenia, genomic variation and selection in the mustard plant, and more.

In Genome Research this week: links between biological aging and mutations affecting epigenetic regulators; long-read sequencing-based strategy to map chromatin accessibility; and more.

Researchers identified characteristic alterations, immune features, and interactions in hundreds of adenocarcinoma and squamous cell carcinomas from China.

A Chinese study involving NIPS data from almost two million pregnant women found that a new bioinformatic approach improves the detection of cancer.

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GenomeWeb reports that Veritas Genetics is suspending its US operations.

A Brazilian-led team of researchers reports it has generated a sugarcane genome assembly that encompasses more than 99 percent of its genome.

Certain plasma proteins could be used to gauge a person's age and whether they are aging well, according to HealthDay News.

In Science this week: approach to measure microRNA targeting efficiency, strategy to conduct high-throughput chemical screens at single-cell resolution, and more.