Machine learning has shown utility in detecting patterns within large, unstructured, and
complex datasets. One of the promising applications of machine learning is in precision …

Artificial Intelligence in Molecular Medicine | New England Journal of Medicine Skip to main
content The New England Journal of Medicine homepage Advanced Search SEARCH …

Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

Clinical annotations are one of the most popular resources available on the
Pharmacogenomics Knowledgebase (PharmGKB). Each clinical annotation summarizes the …

Advances in omics technologies—such as genomics, transcriptomics, proteomics and
metabolomics—have begun to enable personalized medicine at an extraordinarily detailed …

The underrepresentation of non-Europeans in human genetic studies so far has limited the
diversity of individuals in genomic datasets and led to reduced medical relevance for a large …

There is great potential for genome sequencing to enhance patient care through improved
diagnostic sensitivity and more precise therapeutic targeting. To maximize this potential …

Next-generation sequencing (NGS) technology has expanded in the last decades with
significant improvements in the reliability, sequencing chemistry, pipeline analyses, data …

The term next-generation sequencing is almost a decade old, but it remains the colloquial
way to describe highly parallel or high-output sequencing methods that produce data at or …

Abstract PolyPhen‐2 (Polymorphism Phenotyping v2), available as software and via a Web
server, predicts the possible impact of amino acid substitutions on the stability and function …