AI Medical Compendium Topic

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DNA Mutational Analysis

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Machine Learning of Global Phosphoproteomic Profiles Enables Discrimination of Direct versus Indirect Kinase Substrates.

Molecular & cellular proteomics : MCP
Mass spectrometry allows quantification of tens of thousands of phosphorylation sites from minute amounts of cellular material. Despite this wealth of information, our understanding of phosphorylation-based signaling is limited, in part because it is...

Machine learning classifier for identification of damaging missense mutations exclusive to human mitochondrial DNA-encoded polypeptides.

BMC bioinformatics
BACKGROUND: Several methods have been developed to predict the pathogenicity of missense mutations but none has been specifically designed for classification of variants in mtDNA-encoded polypeptides. Moreover, there is not available curated dataset ...

An ensemble approach to accurately detect somatic mutations using SomaticSeq.

Genome biology
SomaticSeq is an accurate somatic mutation detection pipeline implementing a stochastic boosting algorithm to produce highly accurate somatic mutation calls for both single nucleotide variants and small insertions and deletions. The workflow currentl...

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
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...