Background The increased adoption of the internet, social media, wearable devices, e-
health services, and other technology-driven services in medicine and healthcare has led to …

In recent years, an enormous amount of research has been carried out on support vector
machines (SVMs) and their application in several fields of science. SVMs are one of the …

Predicting the effects of mutations in proteins is critical to many applications, from
understanding genetic disease to designing novel proteins to address our most pressing …

Personalized genome sequencing has revealed millions of genetic differences between
individuals, but our understanding of their clinical relevance remains largely incomplete. To …

As a data-driven science, genomics largely utilizes machine learning to capture
dependencies in data and derive novel biological hypotheses. However, the ability to extract …

Here we present deep-learning techniques for healthcare, centering our discussion on deep
learning in computer vision, natural language processing, reinforcement learning, and …

Abstract Combined Annotation-Dependent Depletion (CADD) is a widely used measure of
variant deleteriousness that can effectively prioritize causal variants in genetic analyses …

Artificial intelligence (AI) is gradually changing medical practice. With recent progress in
digitized data acquisition, machine learning and computing infrastructure, AI applications …

Abstract Germline SAMD9 and SAMD9L mutations (SAMD9/9L mut) predispose to
myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we …

VarSome. com is a search engine, aggregator and impact analysis tool for human genetic
variation and a community-driven project aiming at sharing global expertise on human …