Simple Summary Next-generation sequencing (NGS) is a powerful tool used in genomics
research. NGS can sequence millions of DNA fragments at once, providing detailed …

Two decades ago, the sequence of the first human genome was published. Since then,
advances in genome technologies have resulted in whole-genome sequencing and …

The vast majority of missense variants observed in the human genome are of unknown
clinical significance. We present AlphaMissense, an adaptation of AlphaFold fine-tuned on …

The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders,,–, but …

Abstract The Pharma Proteomics Project is a precompetitive biopharmaceutical consortium
characterizing the plasma proteomic profiles of 54,219 UK Biobank participants. Here we …

Population isolates such as those in Finland benefit genetic research because deleterious
alleles are often concentrated on a small number of low-frequency variants (0.1%≤ minor …

Abstract The Catalogue Of Somatic Mutations In Cancer (COSMIC), https://cancer. sanger.
ac. uk/cosmic, is an expert-curated knowledgebase providing data on somatic variants in …

Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …

International cancer registries make real-world genomic and clinical data available, but their
joint analysis remains a challenge. AACR Project GENIE, an international cancer registry …

Comprehensively map** the genetic basis of human disease across diverse individuals is
a long-standing goal for the field of human genetics,,–. The All of Us Research Program is a …