A5024457694- Genetics and Neurodevelopmental Disorders
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Cardiomyopathy and Myosin Studies
- Cancer Genomics and Diagnostics
- Genomics and Phylogenetic Studies
- Cancer-related gene regulation
Personalis (United States)
2025
Stanford University
2022
Abstract Circulating tumor DNA (ctDNA) detection can predict clinical risk in early-stage tumors. However, applications are constrained by the sensitivity of clinically validated ctDNA approaches. NeXT Personal is a whole-genome-based, tumor-informed platform that has been analytically for ultrasensitive at 1–3 ppm with 99.9% specificity. Through an analysis 171 patients lung cancer from TRACERx study, we detected pre-operatively within 81% adenocarcinoma (LUAD), including 53% those...
The study of hypertrophic cardiomyopathy (HCM) can yield insight into the mechanisms underlying complex trait cardiac hypertrophy. To date, most genetic variants associated with HCM have been found in sarcomeric genes. Here, we describe a novel HCM-associated variant noncanonical Wnt signaling interactor WTIP (Wilms tumor interacting protein) and provide evidence role for disease.In family affected by HCM, used exome sequencing identity-by-descent analysis to identify (p.Y233F). We knocked...