Our genomes influence nearly every aspect of human biology—from molecular and cellular
functions to phenotypes in health and disease. Studying the differences in DNA sequence …

Large language models (LLMs) are having transformative impacts across a wide range of
scientific fields, particularly in the biomedical sciences. Just as the goal of natural language …

Sequence-based machine-learning models trained on genomics data improve genetic
variant interpretation by providing functional predictions describing their impact on the cis …

Genomic technologies, such as targeted, exome and short-read genome sequencing
approaches, have revolutionized the care of patients with rare genetic diseases. However …

The ability to predict how amino acid changes affect proteins has a wide range of
applications including in disease variant classification and protein engineering. Many …

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 …

Advancing variant effect prediction using protein language models | Nature Genetics Skip to main
content Thank you for visiting nature.com. You are using a browser version with limited support …

Many of the genetic mutations that cause disease in humans occur in protein-coding
regions. Although the capacity to sequence DNA and identify these variants has …

We lack tools to edit DNA sequences at scales necessary to study 99% of the human
genome that is noncoding. To address this gap, we applied CRISPR prime editing to insert …

Missense variants that change the amino acid sequences of proteins cause one-third of
human genetic diseases. Tens of millions of missense variants exist in the current human …