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.

Hyperspectral oblique plane microscopy enables spontaneous, label-free imaging of biological dynamic processes in live animals.

Spontaneous Raman imaging has emerged as powerful label-free technique for investigating the molecular composition of medicines and biological specimens. Although Raman imaging can facilitate understanding of complex biological phenomena in vivo, current imaging modalities are limited in speed and sample compatibility. Here, we introduce a single-objective line-scanning light-sheet microscope, named [Formula: see text]-OPM, which records Raman images on a timescale of minutes to seconds.

Using cancer phenotype sex-specificity to enable unbiased penetrance estimation of SMARCA4 pathogenic variants for small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).

Purpose: Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is an extremely rare, highly aggressive cancer (mean age of onset, 24 years). Nearly all cases are associated with somatic or germline pathogenic variants (GPVs) in SMARCA4. Early bilateral oophorectomy is recommended for unaffected females with a SMARCA4 GPV.

Fluorescence diffuse optical monitoring of bioreactors: a hybrid deep learning and model-based approach for tomography.

Biosynthesis in bioreactors plays a vital role in many applications, but tools for accurate monitoring of the cells are still lacking. By engineering the cells such that their conditions are reported through fluorescence, it is possible to fill in the gap using fluorescence diffuse optical tomography (fDOT). However, the spatial accuracy of the reconstruction can still be limited, due to e.