We developed the Genomic Regions Enrichment of Annotations Tool (GREAT) to analyze
the functional significance of cis-regulatory regions identified by localized measurements of …

Tumor recurrence is a leading cause of cancer mortality. Therapies for recurrent disease may
fail, at least in part, because the genomic alterations driving the growth of recurrences are …

Despite rapid advances in sequencing technologies, accurately calling genetic variants
present in an individual genome from billions of short, errorful sequence reads remains …

Humans differ from other animals in many aspects of anatomy, physiology, and behaviour;
however, the genotypic basis of most human-specific traits remains unknown 1 . Recent whole…

Models for predicting phenotypic outcomes from genotypes have important applications to
understanding genomic function and improving human health. Here, we develop a machine-…

More than 100,000 genetic variants are reported to cause Mendelian disease in humans,
but the penetrance—the probability that a carrier of the purported disease-causing genotype …

Benchmark small variant calls are required for developing, optimizing and assessing the
performance of sequencing and bioinformatics methods. Here, as part of the Genome in a …

Circular consensus sequencing with Pacific Biosciences (PacBio) technology generates
long (10–25 kilobases), accurate ‘HiFi’ reads by combining serial observations of a DNA …

Chronic obstructive pulmonary disease (COPD), the third leading cause of death worldwide,
is highly heritable. While COPD is clinically defined by applying thresholds to summary …

Background Accurate diagnosis and early detection of complex diseases, such as Parkinson's
disease, has the potential to be of great benefit for researchers and clinical practice. We …