The past 25 years of genomics research first revealed which genes are encoded by the
human genome and then a detailed catalogue of human genome variation associated with …

Alzheimer's disease (AD) is the most common neurodegenerative disease in the world. It is
classified as familial and sporadic. The dominant familial or autosomal presentation …

Understanding gene function and regulation in homeostasis and disease requires
knowledge of the cellular and tissue contexts in which genes are expressed. Here, we …

Thousands of genomic regions have been associated with heritable human diseases, but
attempts to elucidate biological mechanisms are impeded by an inability to discern which …

Importance Most previous genome-wide association studies (GWAS) of depression have
used data from individuals of European descent. This limits the understanding of the …

Traditional drug development and discovery has not kept pace with threats from emerging
and re-emerging diseases such as Ebola virus, MERS-CoV and more recently, SARS-CoV …

Non-alcoholic fatty liver disease (NAFLD) is the leading cause of liver diseases in high-
income countries and the burden of NAFLD is increasing at an alarming rate. The risk of …

Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …

Genome-wide association studies and functional genomics studies have linked specific cell
types, genes, and pathways to Alzheimer's disease (AD) risk. In particular, AD risk alleles …

Alternative splicing is a post-transcriptional regulatory mechanism producing distinct mRNA
molecules from a single pre-mRNA with a prominent role in the development and function of …