AIMC Topic: Mutation
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Mutation analysis of 6 spinocerebellar ataxia (SCA) types in patients from southern Turkey.
Turkish journal of medical sciences
Jan 1, 2015
BACKGROUND/AIM: Spinocerebellar ataxias (SCAs) are complex clinical and genetically heterogeneous, mostly autosomal dominant neurodegenerative diseases. At present, more than 30 hereditary SCA types have been associated with different gene mutations....
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
Jan 1, 2015
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-preval...
Epistasis analysis using artificial intelligence.
Methods in molecular biology (Clifton, N.J.)
Jan 1, 2015
Here we introduce artificial intelligence (AI) methodology for detecting and characterizing epistasis in genetic association studies. The ultimate goal of our AI strategy is to analyze genome-wide genetics data as a human would using sources of exper...
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