CNVs

Researchers explored the role of de novo variants and copy number alterations in the disease using new and existing exome sequences for children with Tourette disorder and their parents.

Using a new machine-learning approach, researchers from the Sanford Burnham Prebys Medical Discovery Institute analyzed brain cells obtained from mice during neurogenesis.

The company will use the funds to develop and refine proprietary algorithms for identifying more complex variants including translocations and inversions. 

An analysis on thousands of Japanese individuals with autism spectrum disorder or schizophrenia uncovered shared pathways and an abundance of rare exonic copy number variants.

With panel sequencing data for more than 143,000 individuals, researchers characterized intragenic copy number variants in hundreds of monogenic disease genes.

This Week in PLOS

In PLOS this week: genetic drift influences diversity among pathogens, QTLs linked to benzimidazole sensitivity, and more.

Investigators identified mutation, expression, and methylation differences in colorectal polyps from individuals with or without colorectal cancer.

An international team of researchers examined the scope and population specificity of copy-number variants affecting genes linked to drug metabolism.

The researchers said that their blood-based ddPCR assay could differentiate men with prostate cancer who have numerous copies of the androgen receptor gene.

Shared gastric adenocarcinoma tumor features seem to span geography and ethnicity, despite shifts in the proportion of tumors from different molecular subtypes.

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Senator Elizabeth Warren (D-Mass.) has released the results of a genetic ancestry analysis, the Boston Globe reports.

Retraction Watch's Ivan Oransky and Adam Marcus report that Harvard Medical School and Brigham and Women's Hospital have recommended that more than 30 papers from a former researcher be retracted.

Thomas Steitz, who won the 2009 chemistry Nobel Prize for his ribosome work, has died, the Washington Post reports.

In PLOS this week: mechanisms for genes implicated in coronary artery disease, rumen microbes and host genetics influence cow methane production, and more.