AI Medical Compendium Journal:
Genome medicine

Showing 21 to 29 of 29 articles

DeepProg: an ensemble of deep-learning and machine-learning models for prognosis prediction using multi-omics data.

Genome medicine
Multi-omics data are good resources for prognosis and survival prediction; however, these are difficult to integrate computationally. We introduce DeepProg, a novel ensemble framework of deep-learning and machine-learning approaches that robustly pre...

Explaining decisions of graph convolutional neural networks: patient-specific molecular subnetworks responsible for metastasis prediction in breast cancer.

Genome medicine
BACKGROUND: Contemporary deep learning approaches show cutting-edge performance in a variety of complex prediction tasks. Nonetheless, the application of deep learning in healthcare remains limited since deep learning methods are often considered as ...

CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores.

Genome medicine
BACKGROUND: Splicing of genomic exons into mRNAs is a critical prerequisite for the accurate synthesis of human proteins. Genetic variants impacting splicing underlie a substantial proportion of genetic disease, but are challenging to identify beyond...

An unsupervised learning approach to identify novel signatures of health and disease from multimodal data.

Genome medicine
BACKGROUND: Modern medicine is rapidly moving towards a data-driven paradigm based on comprehensive multimodal health assessments. Integrated analysis of data from different modalities has the potential of uncovering novel biomarkers and disease sign...

Standard operating procedure for curation and clinical interpretation of variants in cancer.

Genome medicine
Manually curated variant knowledgebases and their associated knowledge models are serving an increasingly important role in distributing and interpreting variants in cancer. These knowledgebases vary in their level of public accessibility, and the co...

Artificial intelligence in clinical and genomic diagnostics.

Genome medicine
Artificial intelligence (AI) is the development of computer systems that are able to perform tasks that normally require human intelligence. Advances in AI software and hardware, especially deep learning algorithms and the graphics processing units (...

The potential of circulating tumor DNA methylation analysis for the early detection and management of ovarian cancer.

Genome medicine
BACKGROUND: Despite a myriad of attempts in the last three decades to diagnose ovarian cancer (OC) earlier, this clinical aim still remains a significant challenge. Aberrant methylation patterns of linked CpGs analyzed in DNA fragments shed by cancer...

ISOWN: accurate somatic mutation identification in the absence of normal tissue controls.

Genome medicine
BACKGROUND: A key step in cancer genome analysis is the identification of somatic mutations in the tumor. This is typically done by comparing the genome of the tumor to the reference genome sequence derived from a normal tissue taken from the same do...

Machine learning identifies a compact gene set for monitoring the circadian clock in human blood.

Genome medicine
BACKGROUND: The circadian clock and the daily rhythms it produces are crucial for human health, but are often disrupted by the modern environment. At the same time, circadian rhythms may influence the efficacy and toxicity of therapeutics and the met...