Interpreting the effects of genetic variants is key to understanding individual susceptibility to
disease and designing personalized therapeutic approaches. Modern experimental …

Network medicine is an emerging area of research dealing with molecular and genetic
interactions, network biomarkers of disease, and therapeutic target discovery. Large-scale …

Gene co-expression networks can be used to associate genes of unknown function with
biological processes, to prioritize candidate disease genes or to discern transcriptional …

The human reference genome assembly plays a central role in nearly all aspects of today's
basic and clinical research. GRCh38 is the first coordinate-changing assembly update since …

The Genotype-Tissue Expression (GTEx) project, sponsored by the NIH Common Fund, was
established to study the correlation between human genetic variation and tissue-specific …

Although all human tissues carry out common processes, tissues are distinguished by gene
expression patterns, implying that distinct regulatory programs control tissue specificity. In …

Mapping perturbed molecular circuits that underlie complex diseases remains a great
challenge. We developed a comprehensive resource of 394 cell type–and tissue-specific …

This paper considers estimation and prediction of a high-dimensional linear regression in
the setting of transfer learning where, in addition to observations from the target model …

Rare genetic diseases are typically caused by a single gene defect. Despite this clear
causal relationship between genotype and phenotype, identifying the pathobiological …

Hundreds of heritable traits and diseases that are caused by germline aberrations in
ubiquitously expressed genes manifest in a remarkably limited number of cell types and …