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 …

Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …

The prediction of molecular phenotypes from DNA sequences remains a longstanding
challenge in genomics, often driven by limited annotated data and the inability to transfer …

Most variants associated with complex traits and diseases identified by genome-wide
association studies (GWAS) map to noncoding regions of the genome with unknown effects …

INTRODUCTION Modern genomics depends on inexpensive short-read sequencing.
Sequenced reads up to a few hundred base pairs in length are computationally mapped to …

Summary The 1000 Genomes Project (1kGP) is the largest fully open resource of whole-
genome sequencing (WGS) data consented for public distribution without access or use …

Many gene expression quantitative trait locus (eQTL) studies have published their summary
statistics, which can be used to gain insight into complex human traits by downstream …

Genomic deep learning models can predict genome-wide epigenetic features and gene
expression levels directly from DNA sequence. While current models perform well at …

INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …

Most genetic variants identified from genome-wide association studies (GWAS) in humans
are noncoding, indicating their role in gene regulation. Previous studies have shown …