Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …

Reference population databases are an essential tool in variant and gene interpretation.
Their use guides the identification of pathogenic variants amidst the sea of benign variation …

Abstract Machine Learning-based scoring and classification of genetic variants aids the
assessment of clinical findings and is employed to prioritize variants in diverse genetic …

As big data, open data, and open science advance to increase access to complex and large
datasets for innovation, discovery, and decision-making, Indigenous Peoples' rights to …

The human reference genome is the most widely used resource in human genetics and is
due for a major update. Its current structure is a linear composite of merged haplotypes from …

Over the past three centuries, people have collected objects and specimens and placed
them in natural history museums throughout the world. Taken as a whole, this global …

The vision of the American Society of Human Genetics (ASHG) is that people everywhere
will realize the benefits of human genetics and genomics. Implicit in that vision is the …

We are a group of archaeologists, anthropologists, curators and geneticists representing
diverse global communities and 31 countries. All of us met in a virtual workshop dedicated to …

The field of environmental DNA (eDNA) is advancing rapidly, yet human eDNA applications
remain underutilized and underconsidered. Broader adoption of eDNA analysis will produce …

Major advances over the past decade in the field of ancient DNA are providing access to
past paleogenomic diversity, but the diverse functions and biosynthetic capabilities of this …