AI Medical Compendium Topic:
Genomics

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Interpretation of deep learning in genomics and epigenomics.

Briefings in bioinformatics
Machine learning methods have been widely applied to big data analysis in genomics and epigenomics research. Although accuracy and efficiency are common goals in many modeling tasks, model interpretability is especially important to these studies tow...

Survey and comparative assessments of computational multi-omics integrative methods with multiple regulatory networks identifying distinct tumor compositions across pan-cancer data sets.

Briefings in bioinformatics
The significance of pan-cancer categories has recently been recognized as widespread in cancer research. Pan-cancer categorizes a cancer based on its molecular pathology rather than an organ. The molecular similarities among multi-omics data found in...

Noninvasive early diagnosis of intestinal diseases based on artificial intelligence in genomics and microbiome.

Journal of gastroenterology and hepatology
The maturing development in artificial intelligence (AI) and genomics has propelled the advances in intestinal diseases including intestinal cancer, inflammatory bowel disease (IBD), and irritable bowel syndrome (IBS). On the other hand, colorectal c...

Opportunities and challenges for the computational interpretation of rare variation in clinically important genes.

American journal of human genetics
Genome sequencing is enabling precision medicine-tailoring treatment to the unique constellation of variants in an individual's genome. The impact of recurrent pathogenic variants is often understood, however there is a long tail of rare genetic vari...

Deep learning in systems medicine.

Briefings in bioinformatics
Systems medicine (SM) has emerged as a powerful tool for studying the human body at the systems level with the aim of improving our understanding, prevention and treatment of complex diseases. Being able to automatically extract relevant features nee...

Artificial Intelligence and Early Detection of Pancreatic Cancer: 2020 Summative Review.

Pancreas
Despite considerable research efforts, pancreatic cancer is associated with a dire prognosis and a 5-year survival rate of only 10%. Early symptoms of the disease are mostly nonspecific. The premise of improved survival through early detection is tha...

Domain-specific introduction to machine learning terminology, pitfalls and opportunities in CRISPR-based gene editing.

Briefings in bioinformatics
The use of machine learning (ML) has become prevalent in the genome engineering space, with applications ranging from predicting target site efficiency to forecasting the outcome of repair events. However, jargon and ML-specific accuracy measures hav...

Deep learning for drug response prediction in cancer.

Briefings in bioinformatics
Predicting the sensitivity of tumors to specific anti-cancer treatments is a challenge of paramount importance for precision medicine. Machine learning(ML) algorithms can be trained on high-throughput screening data to develop models that are able to...

Mouse Genome Database (MGD): Knowledgebase for mouse-human comparative biology.

Nucleic acids research
The Mouse Genome Database (MGD; http://www.informatics.jax.org) is the community model organism knowledgebase for the laboratory mouse, a widely used animal model for comparative studies of the genetic and genomic basis for human health and disease. ...

canSAR: update to the cancer translational research and drug discovery knowledgebase.

Nucleic acids research
canSAR (http://cansar.icr.ac.uk) is the largest, public, freely available, integrative translational research and drug discovery knowledgebase for oncology. canSAR integrates vast multidisciplinary data from across genomic, protein, pharmacological, ...