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

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 …

Sequence-based machine learning models trained on genome-scale biochemical assays
improve our ability to interpret genetic variants by providing functional predictions describing …

Abstract Ensembl (https://www. ensembl. org) is a freely available genomic resource that has
produced high-quality annotations, tools, and services for vertebrates and model organisms …

Nonsense and missense mutations in the transcription factor PAX6 cause a wide range of
eye development defects, including aniridia, microphthalmia and coloboma. To understand …

Interpreting the wealth of rare genetic variants discovered in population-scale sequencing
efforts and deciphering their associations with human health and disease present a critical …

Pendrin and prestin are evolutionary-conserved membrane proteins that are essential for
normal hearing. Dysfunction of these proteins results in hearing loss in humans, and …

The wealth of genomic data has boosted the development of computational methods
predicting the phenotypic outcomes of missense variants. The most accurate ones exploit …