The correlation of phenotypic outcomes with genetic variation and environmental factors is a
core pursuit in biology and biomedicine. Numerous challenges impede our progress: patient …

Prior biological knowledge and phenotype information may help to identify disease genes
from human whole-genome and whole-exome sequencing studies. We developed …

When investigating Mendelian disease using exome or genome sequencing, distinguishing
disease-causing genetic variants from the multitude of candidate variants is a complex …

The role of sex in biomedical studies has often been overlooked, despite evidence of
sexually dimorphic effects in some biological studies. Here, we used high-throughput …

The identification of physical interactions between drug candidate compounds and target
biomolecules is an important process in drug discovery. Since conventional screening …

Although next-generation sequencing has revolutionized the ability to associate variants
with human diseases, diagnostic rates and development of new therapies are still limited by …

In medical contexts, the word “phenotype” is used to refer to some deviation from normal
morphology, physiology, or behavior. The analysis of phenotype plays a key role in clinical …

Genetic studies of human disease have traditionally focused on the detection of disease-
causing mutations in afflicted individuals. Here we describe a complementary approach that …

This era of groundbreaking scientific developments in high-resolution, high-throughput
technologies is allowing the cost-effective collection and analysis of huge, disparate …

Abstract The Ensembl project (http://www. ensembl. org) provides genome information for
sequenced chordate genomes with a particular focus on human, mouse, zebrafish and rat …