AIMC Topic: Mutation

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Prediction of mutation effects using a deep temporal convolutional network.

Bioinformatics (Oxford, England)
MOTIVATION: Accurate prediction of the effects of genetic variation is a major goal in biological research. Towards this goal, numerous machine learning models have been developed to learn information from evolutionary sequence data. The most effecti...

Automated machine learning based on radiomics features predicts H3 K27M mutation in midline gliomas of the brain.

Neuro-oncology
BACKGROUND: Conventional MRI cannot be used to identify H3 K27M mutation status. This study aimed to investigate the feasibility of predicting H3 K27M mutation status by applying an automated machine learning (autoML) approach to the MR radiomics fea...

A reference library for assigning protein subcellular localizations by image-based machine learning.

The Journal of cell biology
Confocal micrographs of EGFP fusion proteins localized at key cell organelles in murine and human cells were acquired for use as subcellular localization landmarks. For each of the respective 789,011 and 523,319 optically validated cell images, morph...

[Prediction of gene mutation in lung cancer based on deep learning and histomorphology analysis].

Sheng wu yi xue gong cheng xue za zhi = Journal of biomedical engineering = Shengwu yixue gongchengxue zazhi
Lung cancer is a most common malignant tumor of the lung and is the cancer with the highest morbidity and mortality worldwide. For patients with advanced non-small cell lung cancer who have undergone epidermal growth factor receptor (EGFR) gene mutat...

SomaticSeq: An Ensemble and Machine Learning Method to Detect Somatic Mutations.

Methods in molecular biology (Clifton, N.J.)
A standard strategy to discover somatic mutations in a cancer genome is to use next-generation sequencing (NGS) technologies to sequence the tumor tissue and its matched normal (commonly blood or adjacent normal tissue) for side-by-side comparison. H...

Ensemble-Based Somatic Mutation Calling in Cancer Genomes.

Methods in molecular biology (Clifton, N.J.)
Identification of somatic mutations in tumor tissue is challenged by both technical artifacts, diverse somatic mutational processes, and genetic heterogeneity in the tumors. Indeed, recent independent benchmark studies have revealed low concordance b...

Risk stratification of cervical lesions using capture sequencing and machine learning method based on HPV and human integrated genomic profiles.

Carcinogenesis
From initial human papillomavirus (HPV) infection and precursor stages, the development of cervical cancer takes decades. High-sensitivity HPV DNA testing is currently recommended as primary screening method for cervical cancer, whereas better triage...

DriverML: a machine learning algorithm for identifying driver genes in cancer sequencing studies.

Nucleic acids research
Although rapid progress has been made in computational approaches for prioritizing cancer driver genes, research is far from achieving the ultimate goal of discovering a complete catalog of genes truly associated with cancer. Driver gene lists predic...