Publications by authors named "L L Handley"
Article Synopsis
- Long-read genome sequencing (lrGS) offers more accurate and comprehensive variant detection for rare diseases compared to short-read genome sequencing (srGS), though its exact impact on diagnostic yield remains unclear.
- In a study involving 96 individuals suspected of having genetic rare diseases, lrGS identified new or potentially relevant genetic variants in 16.7% of participants, with 9.4% possessing pathogenic or likely pathogenic variants.
- While lrGS provided additional insights beyond what was captured by srGS, particularly with structural variations, the study suggests that growing lrGS datasets will further enhance diagnostic capabilities in the future.
Article Synopsis
- Long-read genome sequencing (lrGS) outperforms short-read genome sequencing (srGS) in detecting genetic variants associated with rare diseases.
- In a study of 96 probands who tested negative with srGS, lrGS identified new disease-relevant variants in 16.7% of cases, with 8.33% containing pathogenic or likely pathogenic variants.
- lrGS revealed unique variants not detectable by srGS, highlighting that while reanalyzing previous data can improve diagnostic yield, lrGS provides significant additional insights into rare genetic conditions.
Aims: The MAPK pathway is constitutively activated in uveal melanoma (UM). Selumetinib (AZD6244, ARRY-142886), a MEK inhibitor, has shown limited activity as monotherapy in metastatic UM. Pre-clinical studies support synergistic cytotoxic activity for MEK inhibitors combined with taxanes, and here we sought to assess the clinical efficacy of combining selumetinib and paclitaxel.
View Article and Find Full Text PDFRed algae or seaweeds produce highly distinctive halogenated terpenoid compounds, including the pentabromochlorinated monoterpene halomon that was once heralded as a promising anticancer agent. The first dedicated step in the biosynthesis of these natural product molecules is expected to be catalyzed by terpene synthase (TS) enzymes. Recent work has demonstrated an emerging class of type I TSs in red algal terpene biosynthesis.
View Article and Find Full Text PDFThroughout history, healthcare disparities have contributed harm to patient's physical, mental, and financial wellbeing. Use of continuing professional development (CPD) can relay practical application of strategies to mitigate healthcare disparities. However, there is limited data on the impact of disparities focused CPD.
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