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CNVs

In PLOS this week: phenome-wide association study of psychiatric disorder polygenic risk scores, CNV patterns in rhesus macaques, and more.

Integrated analyses uncovered recurrent changes in renal medullary carcinoma, including potential treatment vulnerabilities stemming from DNA replication stress.

An analysis of lung adenocarcinoma brain metastases uncovered more frequent amplifications or deletions in a handful of genomic regions, pointing to potential drivers.

Individuals with germline PTEN mutations who have autism spectrum disorder or developmental delay often also have copy number variations, a new study has found.

CHOP researchers uncovered CNV associations with four disease categories: autoimmune, cardio-metabolic, oncologic, and neurological/psychiatric diseases.

Researchers discovered a duplication affecting the RYR2 gene in two families, which may indicate that it is a founder mutation in the Amish population.

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.

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Nobel laureates and scientific societies urge NIH and the Department of Health and Human Services to revisit the recent decision to end funding for a coronavirus grant.

Bloomberg reports that BGI's SARS-CoV-2 testing sites in the Middle East have raised concerns among US officials.

A new Pew Research Center poll finds confidence in medical researchers has grown among US adults since the start of the coronavirus pandemic.

In Science this week: machine learning algorithm for faster Mendelian disorder diagnoses, gene linked to safe response to nitrogen-containing bisphosphonates, and more.