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In analyses of multiple traits and diseases, investigators uncovered loss-of-function or truncating changes with apparent protective effects.

In Cell this week: sequencing to understand medulloblastoma metastases, genome and transcriptome implicates TAP1 in X-linked Dystonia-Parkinsonism, and more.

In PNAS this week: mouse model of genetically induced emphysema, gene expression signatures of circulating melanoma cells, and more.

An analysis of metagenomic sequences from donor and recipient stool samples highlighted bacterial abundance, phylogeny, and strain features influencing engraftment.

The polygenic score snags a greater percentage of people at risk of early heart attack than current tests that rely on single-gene variants or blood chemistry.

The Danish informatics firm is exploring analytical tools for its InWeb_InBioMap network, which currently contains more than 700,000 protein-protein interactions. 

The funding will be used to support the the newly established ME/CFS Collaborative Research Center at Stanford University.

The creator of the Genome Aggregation Database sees an ever-expanding GnomAD database as a centerpiece to improving the diagnosis of rare diseases.

Using RNA sequences for thousands of cells, researchers looked at head and neck squamous cell carcinomas and proposed streamlined expression subtypes.

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Researchers have sequenced the genome of the depth-dwelling giant squid.

Prosecutors have charged a former Drexel University professor with theft for allegedly spending federal grant money on adult entertainment and other unrelated expenses, according to the Philadelphia Inquirer.

 

Chris Collins, a former US representative, has been sentenced to more than two years in prison in an insider trading case involving an Australian biotechnology firm, the New York Times reports.

In PNAS this week: Trypanosoma brucei transcripts, estimate of people at risk of inherited retinal disease, and more.