AI Medical Compendium Topic

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Genomics

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A review of deep learning applications in human genomics using next-generation sequencing data.

Human genomics
Genomics is advancing towards data-driven science. Through the advent of high-throughput data generating technologies in human genomics, we are overwhelmed with the heap of genomic data. To extract knowledge and pattern out of this genomic data, arti...

Explainable deep transfer learning model for disease risk prediction using high-dimensional genomic data.

PLoS computational biology
Building an accurate disease risk prediction model is an essential step in the modern quest for precision medicine. While high-dimensional genomic data provides valuable data resources for the investigations of disease risk, their huge amount of nois...

Multiomics, artificial intelligence, and precision medicine in perinatology.

Pediatric research
Technological advances in omics evaluation, bioinformatics, and artificial intelligence have made us rethink ways to improve patient outcomes. Collective quantification and characterization of biological data including genomics, epigenomics, metabolo...

Single-cell specific and interpretable machine learning models for sparse scChIP-seq data imputation.

PloS one
MOTIVATION: Single-cell Chromatin ImmunoPrecipitation DNA-Sequencing (scChIP-seq) analysis is challenging due to data sparsity. High degree of sparsity in biological high-throughput single-cell data is generally handled with imputation methods that c...

Leveraging Algorithms to Improve Decision-Making Workflows for Genomic Data Access and Management.

Biopreservation and biobanking
Studies on the ethics of automating clinical or research decision making using artificial intelligence and other algorithmic tools abound. Less attention has been paid, however, to the scope for, and ethics of, automating decision making within regul...

A new deep learning technique reveals the exclusive functional contributions of individual cancer mutations.

The Journal of biological chemistry
Cancers are caused by genomic alterations that may be inherited, induced by environmental carcinogens, or caused due to random replication errors. Postinduction of carcinogenicity, mutations further propagate and drastically alter the cancer genomes....

Genomics enters the deep learning era.

PeerJ
The tremendous amount of biological sequence data available, combined with the recent methodological breakthrough in deep learning in domains such as computer vision or natural language processing, is leading today to the transformation of bioinforma...

Generalized genomic data sharing for differentially private federated learning.

Journal of biomedical informatics
The success behind Machine Learning (ML) methods has largely been attributed to the quality and quantity of the available data which can spread across multiple owners. A Federated Learning (FL) from distributed datasets often provides a reliable solu...