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Ultrasensitive ctDNA detection for preoperative disease stratification in early-stage lung adenocarcinoma.
Nat Med
January 2025
Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK.
Circulating tumor DNA (ctDNA) detection can predict clinical risk in early-stage tumors. However, clinical applications are constrained by the sensitivity of clinically validated ctDNA detection approaches. NeXT Personal is a whole-genome-based, tumor-informed platform that has been analytically validated for ultrasensitive ctDNA detection at 1-3 ppm of ctDNA with 99.
View Article and Find Full Text PDFProspective validation of ORACLE, a clonal expression biomarker associated with survival of patients with lung adenocarcinoma.
Nat Cancer
January 2025
Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK.
Human tumors are diverse in their natural history and response to treatment, which in part results from genetic and transcriptomic heterogeneity. In clinical practice, single-site needle biopsies are used to sample this diversity, but cancer biomarkers may be confounded by spatiogenomic heterogeneity within individual tumors. Here we investigate clonally expressed genes as a solution to the sampling bias problem by analyzing multiregion whole-exome and RNA sequencing data for 450 tumor regions from 184 patients with lung adenocarcinoma in the TRACERx study.
View Article and Find Full Text PDFMachine learning derived retinal pigment score from ophthalmic imaging shows ethnicity is not biology.
Nat Commun
January 2025
NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust & University College London Institute of Ophthalmology, London, UK.
Few metrics exist to describe phenotypic diversity within ophthalmic imaging datasets, with researchers often using ethnicity as a surrogate marker for biological variability. We derived a continuous, measured metric, the retinal pigment score (RPS), that quantifies the degree of pigmentation from a colour fundus photograph of the eye. RPS was validated using two large epidemiological studies with demographic and genetic data (UK Biobank and EPIC-Norfolk Study) and reproduced in a Tanzanian, an Australian, and a Chinese dataset.
View Article and Find Full Text PDFXOLARIS: A 24-Month, Prospective, Natural History Study of 201 Participants with -Associated X-Linked Retinitis Pigmentosa.
Ophthalmol Sci
August 2024
Biogen Inc., Cambridge, Massachusetts.
Objective: To improve the understanding of the natural disease progression of ()associated X-linked retinitis pigmentosa (XLRP).
Design: A multicenter, prospective, observational natural history study over 24 months.
Participants: Male participants aged ≥7 years with a pathogenic variant in the gene, a best-corrected visual acuity (BCVA) score of ≥34 ETDRS letters, and a mean 68-loci retinal sensitivity (assessed by microperimetry) of 0.
Effects of mitral calcification in severe aortic stenosis with severe mitral regurgitation on left heart remodeling, surgical strategy, and outcomes.
J Thorac Cardiovasc Surg
October 2024
Department of Thoracic and Cardiovascular Surgery, Cleveland Clinic, Cleveland, Ohio; Aortic Valve Center, Cleveland Clinic, Cleveland, Ohio; Mitral Valve Center, Cleveland Clinic, Cleveland, Ohio. Electronic address:
Article Synopsis
- This study aimed to investigate mitral calcification in patients with severe aortic stenosis and mitral regurgitation, assessing its impact on heart structure, surgical interventions, and survival rates.
- Researchers examined 158 patients who underwent various surgical procedures from 1998 to 2010, using CT scans to measure mitral calcium and employing random forest methodology to analyze its relationship with heart function.
- Findings revealed that larger mitral calcium volumes indicated more severe heart disease and required more complex surgical procedures, but contrary to expectations, it did not correlate with long-term survival outcomes.
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