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An analysis of 879,461 adult genomes found approximately 4.3 million to 5.3 million small variants per person, alongside de novo mutations, copy-number changes and disease-associated variants whose interpretation varies by ancestry and data quality.
The present study does not itself demonstrate disease prevention or clinical benefit in humans. The researchers reanalyzed an older genome-wide association study dataset from B. glabrata snails experimentally challenged with S. mansoni. The analysis identified association signals at LG5R and LG11L. LG11L contains a cluster…
A pilot study in 36 pigs found measurable Neat1 expression in blood, saliva and hypothalamus, but its response to psychosocial stress was inconsistent and insufficient to validate it as a welfare biomarker. Subject of Research: Measurement of stress-associated Neat1 expression in blood, saliva…
Genome-wide and reduced-representation sequencing found broad genetic connectivity in Antarctic toothfish but also temporal diversity loss and elevated inbreeding in the Ross Sea.
The area supported a relatively stable population of four to six adult Iberian lynx, including two to three males and two to three females, and 105 to 223 black kite breeding pairs. Black kites represented 82–90% of the local raptor assemblage. The two…
TranscriptFormer used an analogous reconstruction task, but its inputs and prediction targets were gene-expression values rather than words. The resulting model was therefore trained to learn structure in cellular expression data at a scale encompassing many cell types and 12 species.
A review describes how RXLR effectors from the potato late blight pathogen target multiple immune and cellular processes that support host colonisation. Instead, it identifies effector–host interactions as an area relevant to the pursuit of more durable forms of…
A meta-analysis of 8,461 Native Hawaiians and Samoans identified 25 significant genetic associations across 13 cardiometabolic traits, including a strengthened link between a CREBRF variant and fasting glucose. A meta-analysis of more than 8,000 Native Hawaiians and Samoans identified 25 genome-wide significant genetic associations across…
Experiments in amoebae and murine microglial cells show that EsxA initiates repairable vacuole membrane lesions, while PDIM helps those lesions progress toward rupture and cytosolic escape. Subject of Research: Distinct roles of EsxA and PDIM in mycobacterial vacuole membrane damage…
AllSci Stanford University researchers developed a programmable RNA base-editing system built from human proteins that outperformed established CRISPR-based editors in laboratory comparisons, potentially offering a less immunogenic approach to therapeutic RNA modification. The platform, described in Nature Biotechnology, repurposes the…