AIMC Topic: DNA, Neoplasm

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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.

Association of genomic subtypes of lower-grade gliomas with shape features automatically extracted by a deep learning algorithm.

Computers in biology and medicine
Recent analysis identified distinct genomic subtypes of lower-grade glioma tumors which are associated with shape features. In this study, we propose a fully automatic way to quantify tumor imaging characteristics using deep learning-based segmentati...

MSIpred: a python package for tumor microsatellite instability classification from tumor mutation annotation data using a support vector machine.

Scientific reports
Microsatellite instability (MSI) is characterized by high degree of polymorphism in microsatellite lengths due to deficiency in mismatch repair (MMR) system. MSI is associated with several tumor types and its status can be considered as an important ...

Automated detection of cancer cells in effusion specimens by DNA karyometry.

Cancer cytopathology
BACKGROUND: The average sensitivity of conventional cytology for the identification of cancer cells in effusion specimens is only approximately 58%. DNA image cytometry (DNA-ICM), which exploits the DNA content of morphologically suspicious nuclei me...

Identification of the functional alteration signatures across different cancer types with support vector machine and feature analysis.

Biochimica et biophysica acta. Molecular basis of disease
Cancers are regarded as malignant proliferations of tumor cells present in many tissues and organs, which can severely curtail the quality of human life. The potential of using plasma DNA for cancer detection has been widely recognized, leading to th...

The mutational oncoprint of recurrent cytogenetic abnormalities in adult patients with de novo acute myeloid leukemia.

Leukemia
Recurrent chromosomal abnormalities and gene mutations detected at the time of diagnosis of acute myeloid leukemia (AML) are associated with particular disease features, treatment response and survival of AML patients, and are used to denote specific...

Extracting genetic alteration information for personalized cancer therapy from ClinicalTrials.gov.

Journal of the American Medical Informatics Association : JAMIA
OBJECTIVE: Clinical trials investigating drugs that target specific genetic alterations in tumors are important for promoting personalized cancer therapy. The goal of this project is to create a knowledge base of cancer treatment trials with annotati...

DISMIR: Deep learning-based noninvasive cancer detection by integrating DNA sequence and methylation information of individual cell-free DNA reads.

Briefings in bioinformatics
Detecting cancer signals in cell-free DNA (cfDNA) high-throughput sequencing data is emerging as a novel noninvasive cancer detection method. Due to the high cost of sequencing, it is crucial to make robust and precise predictions with low-depth cfDN...

Prediction of tumor purity from gene expression data using machine learning.

Briefings in bioinformatics
MOTIVATION: Bulk tumor samples used for high-throughput molecular profiling are often an admixture of cancer cells and non-cancerous cells, which include immune and stromal cells. The mixed composition can confound the analysis and affect the biologi...