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 …

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 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 …

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

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 …

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 …

The long delay before genomic technologies become available in low-and middle-income
countries is a concern from both scientific and ethical standpoints. Polygenic risk scores …

The past decade has witnessed a rapid evolution in rare disease (RD) research, fueled by
the availability of genome-wide (exome and genome) sequencing. In 2011, as this …

Genomic data from millions of individuals have been generated worldwide to drive discovery
and clinical impact in precision medicine. Lowering the barriers to using these data …