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The Evolutionary Feedback between Genetic Conflict and Genome Architecture
(2014-06-06)
The advent of separate sexes set the stage for dramatic evolutionary innovation across a wide range of taxa. Much of this innovation is attributable to divergent evolutionary interests between now distinct sub-populations ...
Leveraging genetic association data to investigate the polygenic architecture of human traits and diseases
(2014-06-06)
Many human traits and diseases have a polygenic architecture, where phenotype is partially determined by variation in many genes. These complex traits or diseases can be highly heritable and genome-wide association studies ...
Computational and Experimental Approaches For Evaluating the Genetic Basis of Mitochondrial Disorders
(2013-10-08)
Mitochondria are responsible for many fundamental biological pathways and metabolic processes, including aerobic ATP production by the mitochondrial respiratory chain. In humans, mitochondrial dysfunction can lead to severe ...
Leveraging genomic approaches to characterize mitochondrial RNA biology
(2014-06-06)
Transcription and translation of mammalian mitochondrial DNA (mtDNA) occurs within the mitochondrial matrix to produce oxidative phosphorylation subunits required for efficient energy production. These mtDNA-encoded subunits ...
Post-Genomic Approaches to Personalized Medicine: Applications in Exome Sequencing, Microbiome, and COPD
(2014-06-06)
Since the completion of the sequencing of the human genome at the turn of the century, genomics has revolutionized the study of biology and medicine by providing high-throughput and quantitative methods for measuring ...
Genome-Wide Identification and Characterization of Stimulus-Responsive Enhancers in the Nervous System
(2013-08-21)
During development, intrinsic genetic programs give rise to distinct cellular lineages through the establishment of cell type specific chromatin states. These distinct chromatin states instruct gene expression primarily ...
Personal Genomics and Mitochondrial Disease
(2013-09-30)
Mitochondrial diseases involving dysfunction of the respiratory chain are the most common inborn errors of metabolism. Mitochondria are found in all cell types besides red blood cells; consequently, patients can present ...
The regulatory capacity of long non-coding RNA in Plasmodium falciparum malaria
(2014-10-21)
The mechanisms underpinning gene regulation in P. falciparum malaria remain largely elusive, though mounting evidence suggests a major role for epigenetic feedback. Interestingly, long non-(protein)-coding RNAs (lncRNAs) ...
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 ...