Small variant benchmark from a complete assembly of X and Y chromosomes.

The sex chromosomes contain complex, important genes impacting medical phenotypes, but differ from the autosomes in their ploidy and large repetitive regions. To enable technology developers along with research and clinical laboratories to evaluate variant detection on male sex chromosomes X and Y, we create a small variant benchmark set with 111,725 variants for the Genome in a Bottle HG002 reference material. We develop an active evaluation approach to demonstrate the benchmark set reliably identifies errors in challenging genomic regions and across short and long read callsets.

Extended Reality Interventions for Health and Procedural Anxiety: Panoramic Meta-Analysis Based on Overviews of Reviews.

Background: Extended reality (XR) technologies are increasingly being used to reduce health and procedural anxieties. The global effectiveness of these interventions is uncertain, and there is a lack of understanding of how patient outcomes might vary between different contexts and modalities.

Objective: This research used panoramic meta-analysis to synthesize evidence across the diverse clinical contexts in which XR is used to address common outcomes of health and procedural anxiety.

Activity of the mammalian DNA transposon piggyBat from Myotis lucifugus is restricted by its own transposon ends.

Members of the piggyBac superfamily of DNA transposons are widely distributed in host genomes ranging from insects to mammals. The human genome has retained five piggyBac-derived genes as domesticated elements although they are no longer mobile. Here, we have investigated the transposition properties of piggyBat from Myotis lucifugus, the only known active mammalian DNA transposon, and show that its low activity in human cells is due to subterminal inhibitory DNA sequences.

Cancer Risk in Thyroid Nodules: An Analysis of Over 1000 Consecutive FNA Biopsies Performed in a Single Canadian Institution.

To determine the cancer risk in thyroid nodules using ACR TI-RADS. A retrospective analysis of all thyroid biopsies was performed over a 3-year period (2021 to 2023). Variables including gender, age, history of thyroid cancer or neck irradiation, nodule size and location, TR level, and sonographic features such as punctate echogenic foci (PEF), a very hypoechoic appearance, taller-than-wide shape, and suspected extrathyroidal extension were analyzed.

Evaluating hypothetical prevention strategies for internalizing symptoms in the general population and at-risk children.

Objective: Specific modifiable factors (e.g., screen time [ST], sleep duration, physical activity, or social connections) are targets for reducing depression risk in adults.