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DNA Methylation

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An appropriate DNA input for bisulfite conversion reveals LINE-1 and Alu hypermethylation in tissues and circulating cell-free DNA from cancers.

PloS one
The autonomous and active Long-Interspersed Element-1 (LINE-1, L1) and the non-autonomous Alu retrotransposon elements, contributing to 30% of the human genome, are the most abundant repeated sequences. With more than 90% of their sequences being met...

Prediction of Composite Clinical Outcomes for Childhood Neuroblastoma Using Multi-Omics Data and Machine Learning.

International journal of molecular sciences
Neuroblastoma is a common malignant tumor in childhood that seriously endangers the health and lives of children, making it essential to find effective prognostic markers to accurately predict their clinical outcomes. The development of high-throughp...

AI-driven feature selection and epigenetic pattern analysis: A screening strategy of CpGs validated by pyrosequencing for body fluid identification.

Forensic science international
Identification of body fluid stain at crime scene is one of the important tasks of forensic evidence analysis. Currently, body fluid-specific CpGs detected by DNA methylation microarray screening, have been widely studied for forensic body fluid iden...

Assessment of MGMT promoter methylation status in glioblastoma using deep learning features from multi-sequence MRI of intratumoral and peritumoral regions.

Cancer imaging : the official publication of the International Cancer Imaging Society
OBJECTIVE: This study aims to evaluate the effectiveness of deep learning features derived from multi-sequence magnetic resonance imaging (MRI) in determining the O-methylguanine-DNA methyltransferase (MGMT) promoter methylation status among glioblas...

Tumour purity assessment with deep learning in colorectal cancer and impact on molecular analysis.

The Journal of pathology
Tumour content plays a pivotal role in directing the bioinformatic analysis of molecular profiles such as copy number variation (CNV). In clinical application, tumour purity estimation (TPE) is achieved either through visual pathological review [conv...

Spatially resolved transcriptomics and graph-based deep learning improve accuracy of routine CNS tumor diagnostics.

Nature cancer
The diagnostic landscape of brain tumors integrates comprehensive molecular markers alongside traditional histopathological evaluation. DNA methylation and next-generation sequencing (NGS) have become a cornerstone in central nervous system (CNS) tum...

Deep learning classification of MGMT status of glioblastomas using multiparametric MRI with a novel domain knowledge augmented mask fusion approach.

Scientific reports
We aimed to build a robust classifier for the MGMT methylation status of glioblastoma in multiparametric MRI. We focused on multi-habitat deep image descriptors as our basic focus. A subset of the BRATS 2021 MGMT methylation dataset containing both M...

Deep learning predicts DNA methylation regulatory variants in specific brain cell types and enhances fine mapping for brain disorders.

Science advances
DNA methylation (DNAm) is essential for brain development and function and potentially mediates the effects of genetic risk variants underlying brain disorders. We present INTERACT, a transformer-based deep learning model to predict regulatory varian...