Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK).

Purpose: Current practice is to report and manage likely pathogenic/pathogenic variants in a given cancer susceptibility gene as though having equivalent penetrance, despite increasing evidence of intervariant variability in risk associations. Using existing variant interpretation approaches, largely based on full-penetrance models, variants in which reduced penetrance is suspected may be classified inconsistently and/or as variants of uncertain significance. We aimed to develop a national consensus approach for such variants within the Cancer Variant Interpretation Group UK (CanVIG-UK) multidisciplinary network.

Lumbar Sitting Behavior of Individuals with Low Back Pain: A Preliminary Study Using Extended Real-World Data.

Low back pain affects 619 million people worldwide and is commonly provoked by sitting. Current assessment methods constrain task variability, removing real-world, task-switching behaviors. This study utilized accelerometers to provide an original validated method of in vivo real-world assessment of lumbar sitting behavior throughout a full day.

The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.

Background: The 2015 American College of Medical Genetics/Association of Molecular Pathology (ACMG/AMP) variant classification framework specifies that case-control observations can be scored as 'strong' evidence (PS4) towards pathogenicity.

Methods: We developed the PS4-likelihood ratio calculator (PS4-LRCalc) for quantitative evidence assignment based on the observed variant frequencies in cases and controls. Binomial likelihoods are computed for two models, each defined by prespecified OR thresholds.

Spatial distribution of sandeel (Hyperoplus lanceolatus) and implications for monitoring marine protected sites.

Increased human demand on the marine environment and associated biodiversity threatens sustainable delivery of ecosystem goods and services, particularly for shallow shelf-sea habitats. As a result, more attention is being paid to quantifying the geographical range and distribution of seabed habitats and keystone species vulnerable to human pressures. In this study, we develop a workflow based on unsupervised K-Means classification units and Generalized Linear Models built from multi-frequency backscatter analyses (95, 300 kHz), bathymetry and bathymetry derivatives (slope) to predict different levels of sandeel densities in Hempton's Turbot Bank Special Area of Conservation (SAC).

Validity and reliability of inertial measurement units used to measure motion of the lumbar spine: A systematic review of individuals with and without low back pain.

Low back pain (LBP) is a leading cause of disability, resulting in aberrant movement. This movement is difficult to measure accurately in clinical practice and gold standard methods, such as optoelectronic systems involve the use of expensive laboratory equipment. Inertial measurement units (IMU) offer an alternative method of quantifying movement that is accessible in most environments.