Article
Machine learning from concept to clinic: reliable detection of BRAF V600E DNA mutations in thyroid nodules using high-dimensional RNA expression data.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing - 1 Jan 2015
Diggans James, Kim Su Yeon, Hu Zhanzhi, Pankratz Daniel, Wong Mei, Reynolds Jessica, Tom Ed, Pagan Moraima, Monroe Robert, Rosai Juan, Livolsi Virginia A, Lanman Richard B, Kloos Richard T, Walsh P Sean, Kennedy Giulia C
Abstract excerpt
The promise of personalized medicine will require rigorously validated molecular diagnostics developed on minimally invasive, clinically relevant samples. Measurement of DNA mutations is increasingly common in clinical settings but only higher-prevalence mutations are cost-effective. Patients with rare variants are at best ignored or, at worst, misdiagnosed. Mutations result in downstream impacts on...
Topics
- Biopsy, Fine-Needle
- Computational Biology
- DNA Mutational Analysis
- DNA, Neoplasm
- Gene Expression Profiling
- High-Throughput Nucleotide Sequencing
- Humans
- Machine Learning
- Mutation