AIMC Topic: DNA Mutational Analysis

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Diagnostic accuracy and potential covariates for machine learning to identify IDH mutations in glioma patients: evidence from a meta-analysis.

European radiology
OBJECTIVES: To assess the diagnostic accuracy of machine learning (ML) in predicting isocitrate dehydrogenase (IDH) mutations in patients with glioma and to identify potential covariates that could influence the diagnostic performance of ML.

Virtual genetic diagnosis for familial hypercholesterolemia powered by machine learning.

European journal of preventive cardiology
AIMS: Familial hypercholesterolemia (FH) is the most common genetic disorder of lipid metabolism. The gold standard for FH diagnosis is genetic testing, available, however, only in selected university hospitals. Clinical scores - for example, the Dut...

Detection of the BRAF V600E Mutation in Colorectal Cancer by NIR Spectroscopy in Conjunction with Counter Propagation Artificial Neural Network.

Molecules (Basel, Switzerland)
This paper proposes a sensitive, sample preparation-free, rapid, and low-cost method for the detection of the B-rapidly accelerated fibrosarcoma (BRAF) gene mutation involving a substitution of valine to glutamic acid at codon 600 (V600E) in colorect...

Deep convolutional neural networks for accurate somatic mutation detection.

Nature communications
Accurate detection of somatic mutations is still a challenge in cancer analysis. Here we present NeuSomatic, the first convolutional neural network approach for somatic mutation detection, which significantly outperforms previous methods on different...

A multi-task convolutional deep neural network for variant calling in single molecule sequencing.

Nature communications
The accurate identification of DNA sequence variants is an important, but challenging task in genomics. It is particularly difficult for single molecule sequencing, which has a per-nucleotide error rate of ~5-15%. Meeting this demand, we developed Cl...

A hybrid approach for automated mutation annotation of the extended human mutation landscape in scientific literature.

AMIA ... Annual Symposium proceedings. AMIA Symposium
As the cost of DNA sequencing continues to fall, an increasing amount of information on human genetic variation is being produced that could help progress precision medicine. However, information about such mutations is typically first made available...

A deep learning approach to automate refinement of somatic variant calling from cancer sequencing data.

Nature genetics
Cancer genomic analysis requires accurate identification of somatic variants in sequencing data. Manual review to refine somatic variant calls is required as a final step after automated processing. However, manual variant refinement is time-consumin...

A universal SNP and small-indel variant caller using deep neural networks.

Nature biotechnology
Despite rapid advances in sequencing technologies, accurately calling genetic variants present in an individual genome from billions of short, errorful sequence reads remains challenging. Here we show that a deep convolutional neural network can call...

A Cascaded Deep Convolutional Neural Network for Joint Segmentation and Genotype Prediction of Brainstem Gliomas.

IEEE transactions on bio-medical engineering
GOAL: Automatic segmentation of brainstem gliomas and prediction of genotype (H3 K27M) mutation status based on magnetic resonance (MR) images are crucial but challenging tasks for computer-aided diagnosis in neurosurgery. In this paper, we present a...