biomedicine

AI4GH Seminar Series | Predicting Protein Function and Phenotype Associations

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B2 R5220

The amount of available protein sequences is rapidly increasing, mainly as a consequence of the development and application of high ​throughput sequencing technologies in the life sciences.

Ontology Design Patterns for Combining Pathology and Anatomy: Application to Study Ageing and Longevity in Inbred Mouse Strains

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B9 R3120

Abstract In biomedical research, ontologies are widely used to represent knowledge as well as annotate datasets. Many of the existing ontologies cover a single type of phenomena, such as a process, cell type, gene, pathological entity or anatomical structure. Consequently, it is required to use multiple ontologies to fully characterize the observations in the datasets. Although this allows precise annotation of different aspects of a given dataset, it limits our ability to use the ontologies in data analysis, as the ontologies are usually disconnected and their combination cannot be exploited

AI4GH Seminar Series| Artificial Intelligence for Genomics and Health: Introduction and Overview

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B2 R5220

Abstract Genomics and health are prime areas for the development and application of novel intelligent algorithms due to a large amount of available research data, the high complexity of the problem, and the significant social and economic benefits of improving health outcomes in humans. In the past, genomics and health have been one of the key drivers in the development of Artificial Intelligence methods, including machine learning, expert systems, or graph-based algorithms. I will introduce the new seminar series on Artificial Intelligence for Genomics and Health (AI4GH), and then discuss our

Causality-based new drug development: Some successful cases and a new challenge

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B2 L5 R5209

Abstract The success rate of new drug development is extremely low. It is even lower when the new drug has a novel mechanism of action. From my experience, I propose that the success rate can be dramatically increased by predicting the effects of a drug in humans based on the causality-confirmed data. It is dangerous to develop new drugs based on the data in which causality is not confirmed. In biology, there are three different types of relationships in which the causality is confirmed, i.e. the relationships between parent and child, between gene and phenotype and between intervention and

Accelerating biomedical discovery with an Internet of FAIR data and services

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B9 L2 H1 R2322

In this talk, I will discuss our work to create computational standards, platforms, and methods to wrangle knowledge into simple, but effective representations based on semantic web technologies that are maximally FAIR - Findable, Accessible, Interoperable, and Reuseable - and to further use these for biomedical knowledge discovery. But only with additional crucial developments will this emerging Internet of FAIR data and services enable automated scientific discovery on a global scale.

Towards Accurate Biomedical Genomics Anywhere Anytime - Graduate Seminar

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B9 L2 H1 R2322

Abstract Current genetic diagnosis by next-generation sequencing requires a large investment of resources and offers little point-of-care portability. Furthermore, it is unable to detect many types of genetic variations - including large deletions, duplications, and balanced translocations - that are relevant to human diseases and health. Comparing to other sequencing technologies, Nanopore sequencing owns the advantages of point-of-care (i.e., sequencing anywhere anytime), long reads (i.e., assembly-free to detect various genetic variations), and PCR free (i.e., sample preparation is easy)

Disease researchers have a way with words

1 min read ·
Specialized word search method sheds light on phenotypic similarity of diseases.