Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

Recent progress in engineering highly promising biocatalysts has increasingly involved
machine learning methods. These methods leverage existing experimental and simulation …

The human reference genome represents only a small number of individuals, which limits its
usefulness for genotyping. We present a method named HISAT2 (hierarchical indexing for …

Nearly all genetic variants that influence disease risk have human-specific origins; however,
the systems they influence have ancient roots that often trace back to evolutionary events …

The vast majority of genome-wide association studies (GWASs) are performed in
Europeans, and their transferability to other populations is dependent on many factors (eg …

Deep learning is driving recent advances behind many everyday technologies, including
speech and image recognition, natural language processing and autonomous driving. It is …

As whole-genome sequencing (WGS) becomes the gold standard tool for studying
population genomics and medical applications, data on diverse non-European and admixed …

The lack of representation of diverse ancestral backgrounds in genomic research is well-
known, and the resultant scientific and ethical limitations are becoming increasingly …

Existing guidance regarding clinically informed germline testing for patients with cancer is
effective for evaluation of classic hereditary cancer syndromes and established gene/cancer …

Native Americans from the Amazon, Andes, and coastal geographic regions of South
America have a rich cultural heritage but are genetically understudied, therefore leading to …