Rare diseases are a leading cause of infant mortality and lifelong disability. To improve
outcomes, timely diagnosis and effective treatments are needed. Genomic sequencing has …

Summary In 2020, the National Human Genome Research Institute (NHGRI) made ten" bold
predictions," including that" the clinical relevance of all encountered genomic variants will be …

The genome is a sequence that encodes the DNA, RNA, and proteins that orchestrate an
organism's function. We present Evo, a long-context genomic foundation model with a …

Abstract Galaxy (https://galaxyproject. org) is deployed globally, predominantly through free-
to-use services, supporting user-driven research that broadens in scope each year. Users …

An increasing number of researchers support reproducibility by including pointers to and
descriptions of datasets, software and methods in their publications. However, scientific …

PRECISION MEDICINE AND GENOMICS: A COMPREHENSIVE REVIEW OF IT-ENABLED
APPROACHES Page 1 International Medical Science Research Journal, Volume 4, Issue 4 …

Microbiome data, metadata and analytical workflows have become 'big'in terms of volume
and complexity. Although the infrastructure and technologies to share data have been …

The technical development of high‐throughput sequencing technologies and the parallel
development of targeted therapies in the last decade have enabled a transition from …

Summary The NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-
space (AnVIL; https://anvilproject. org) was developed to address a widespread community …

TG is a shareholder of Westlake Omics Inc. TI is a cofounder of Data4Cure, is on the
Scientific Advisory Board and has an equity interest. TI is on the Scientific Advisory Board of …