targeted sequencing

St. Jude researchers found germline mutations in the transcription factor gene IKZF1 in 0.9 percent of presumed sporadic pediatric acute lymphoblastic leukemia cases.

The effort, sponsored by two therapeutics companies, is providing no-cost genetic testing and counseling for people with Duchenne who otherwise couldn't afford it.

The firm is in the midst of evaluating its strategic options and has hired Raymond James to assist in the process, which could include the sale of the firm, it said.

Prospective panel sequencing on colorectal cancer patients picked up Lynch syndrome with sensitivity and specificity that met or exceeded gene-by-gene tests.

Researchers identified rare, functionally disruptive variants in the voltage-gated sodium channel gene SCN4A in a small subset of SIDS cases.

Independent teams used ScarTrace and MAP-seq to follow cell type development in zebrafish and characterize axonal projections in the mouse visual cortex, respectively.

The researchers estimated that the newly sequenced late Neanderthals likely split from the lineage leading to much older Altai Neanderthal roughly 150,000 years ago.

In cases lacking explanatory protein-coding changes, researchers saw an uptick in de novo mutations in conserved, non-coding regulatory elements.

Aubrac cattle

A collection of more than 500 bacteria and archaea may provide insights into lignocellulose breakdown and methane production in the guts of ruminant animals.

New ancient DNA studies have revealed female-biased migrations into Bavaria during the Middle Ages and more ancient Neolithic farmer expansions into Iberia.

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A new analysis examines the gender gap among paper authors in the sciences and says it may take decades or more to close.

Researchers have uncovered signals of selection that may enable the Bajau people to free five hundreds of feet deep, Reuters reports.

In Science this week: paternally inherited cis-regulatory structural variants in autism, and more.

A new report outlines issues facing the implementation of personalized medicine in the UK, the Independent reports.