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Transposable Elements in Health and Disease
(2021-11-16)
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 ...
Integrating large-scale genomics data to improve variant interpretation in coding and non-coding regions
(2021-05-06)
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 ...
Identification and Interpretation of Causal Genetic Variants Underlying Human Phenotypes
(2022-05-16)
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 ...
High-throughput functional characterization of regulatory variants related to human evolution and disease
(2022-05-18)
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 ...
In situ epigenomics across length scales
(2022-09-09)
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 ...
AGE REVERSAL BY TRANSCRIPTOMIC REPROGRAMMING
(2022-11-23)
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 ...
Decoding the function of human variation
(2022-11-23)
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 ...
Analyzing the multidimensionality of aging by using machine learning to predict age from diverse medical datasets
(2021-05-12)
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 ...
Integration of multimodal single-cell data to characterize T cell phenotypes, gene regulation, and disease associations
(2022-07-28)
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 regulation from the nucleus to the mitochondria
(2021-01-08)
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 ...