Transposable elements are DNA sequences that can move within the genome. They play a pivotal role in genomic variability in humans and can cause diseases. Their repetitive nature requires specific computational algorithms ...

Large-scale human population genomic studies have significantly accelerated our understanding of genetic contributions of rare and common diseases; approaches include genome wide association studies (GWAS) utilizing single ...

Human genetics provides a powerful approach for the identification of genetic loci involved in the pathogenesis of human disease. Whole exome (WES), and increasingly whole genome, sequencing have allowed for the identification ...

Evolutionary genetics is at an exciting crossroads due to the growing ability to functionally characterize non-coding regions enabled by high-throughput genomic technologies. Although coding sequence differences between ...

Chromatin is spatially organized across length scales, from DNA base pairs to chromosomes to tissues. This organization, which is encompassed in the term epigenomics, is thought to regulate gene expression and control ...

Aging is a progressive multifaceted functional decline of a biological system. Chronic age-related conditions such as cancer, cardiovascular, and neurodegenerative diseases are leading causes of death worldwide. As the ...

Gene regulation is fundamental to the identity and survival of every cell. While less than 2% of the human genome is dedicated to protein-coding sequence, at least 19% of the genome is associated with open chromatin or ...

The world population is aging, leading to a rise in the prevalence of age-related diseases such as cardiovascular disease and cancer. In parallel to treating the diseases, an attractive idea is to address the problem at ...

T cells are heterogeneous immune cells with a spectrum of functional phenotypes—cell states—critical to processes ranging from infection to autoimmunity. Traditionally, T cells have been partitioned into mutually exclusive ...

Gene expression links genotype to phenotype; it is the fundamental mechanism by which genomic information stored in DNA is functionalized into RNA and, eventually, protein. Gene expression is a complex process, tightly ...