The study showed that targeted sequencing was feasible, identified many clinically relevant alterations, and directed effective targeted therapy in several cases.
The researchers used both targeted and exome sequencing to genetically diagnose patients.
Researchers applied their gene genealogy interrogation approach to fish in the otophysan clade before moving on to other branches in the tree of life.
Targeted sequencing on isolates collected in Saudi Arabia led to 16 rare, non-tuberculosis Mycobacterium species from individuals with lung or other infections.
A phylogenetic analysis of gut microbial communities in the Inuit population revealed broad similarities to gut microbiomes from individuals in the city of Montreal.
Genetic and immune profiles from Brazilian leishmaniasis cases suggest parasite strain and inflammatory cytokine may contribute to unusual forms of the disease.
In lower-grade glioma tumors lacking three known biomarkers, investigators identified TP53 and H3.3 histone mutations that appear to be linked to poor outcomes.
Roughly one-third of castration-resistant prostate cancer cases appear to involve rearrangements affecting the androgen receptor gene.
From targeted metagenomics on almost 300 soil samples, researchers saw evidence for microbiome gene clusters associated with natural product biosynthesis in NYC parks.
New studies touched on epigenetic, regulatory, and transcriptional features for brain, kidney, and breast tumors as well as various blood cancer types.
In Science this week: metagenomic-based technique for determining protein structure, and more.
An academic laments the rise of narcissism in the sciences, the Guardian reports.
Outgoing FDA commissioner Robert Califf writes in an editorial that the agency can help boost innovation.
The Trump transition team has asked NIH Director Francis Collins to remain at his post, though it's unclear for how long that will be.