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Unraveling the Complex Role of Repetitive Elements in the Human Genome with Dr. O'Neill
In this illuminating episode, we welcome distinguished scientist Dr. O'Neill to discuss their critical research on repetitive elements in the human genome, their influence on our genetic variation and health, and the technological advancements facilitating this research.
Repetitive elements like transposable elements (TEs), repeat expansions, and repeat-mediated structural rearrangements significantly shape chromosome structure, species evolution, and human health, contributing to our genetic variation. Despite their pivotal role, technological limitations during the human genome reference GRCh38 development have left these repetitive regions unexplored.
Dr. O'Neill and team utilized long-read sequencing to support the complete assembly of the pseudo-haploid human cell line CHM13, providing an opportunity for a genome-scale assessment of all human repetitive sequences and their epigenetic and transcriptional profiles. This comprehensive investigation reveals repeat divergence, evolution, and expansions or contractions with impressive resolution.
This study identified 43 previously unknown repeats and repeat variants, characterized 19 complex, composite repetitive structures, and developed an updated catalog of human repetitive sequences. Through precision nuclear run-on sequencing and assessment of CpG methylated sites, the team unveiled intriguing correlations between nascent transcription, sequence divergence, CpG density, and methylation.
The results demonstrate the dynamic relationship between transcriptionally active retroelement subclasses and DNA methylation and hint at potential mechanisms for the evolution of new repeat families and composite elements. The research also highlights the impact of repeats on the structural diversity of the genome and the likely existence of high levels of repeat variation across the human population.
Join us as Dr. O'Neill dives deeper into the role of repeats in our genome and shares insights into how this knowledge could revolutionize our understanding of human genetics and health.
Keywords: Human genome, repetitive elements, transposable elements, repeat expansions, long-read sequencing, CHM13, epigenetics, transcriptional profiles, repeat divergence, CpG methylation, DNA methylation, genomic innovations.
https://doi.org/10.1126/science.abk3112
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By Catarina CunhaIn this illuminating episode, we welcome distinguished scientist Dr. O'Neill to discuss their critical research on repetitive elements in the human genome, their influence on our genetic variation and health, and the technological advancements facilitating this research.
Repetitive elements like transposable elements (TEs), repeat expansions, and repeat-mediated structural rearrangements significantly shape chromosome structure, species evolution, and human health, contributing to our genetic variation. Despite their pivotal role, technological limitations during the human genome reference GRCh38 development have left these repetitive regions unexplored.
Dr. O'Neill and team utilized long-read sequencing to support the complete assembly of the pseudo-haploid human cell line CHM13, providing an opportunity for a genome-scale assessment of all human repetitive sequences and their epigenetic and transcriptional profiles. This comprehensive investigation reveals repeat divergence, evolution, and expansions or contractions with impressive resolution.
This study identified 43 previously unknown repeats and repeat variants, characterized 19 complex, composite repetitive structures, and developed an updated catalog of human repetitive sequences. Through precision nuclear run-on sequencing and assessment of CpG methylated sites, the team unveiled intriguing correlations between nascent transcription, sequence divergence, CpG density, and methylation.
The results demonstrate the dynamic relationship between transcriptionally active retroelement subclasses and DNA methylation and hint at potential mechanisms for the evolution of new repeat families and composite elements. The research also highlights the impact of repeats on the structural diversity of the genome and the likely existence of high levels of repeat variation across the human population.
Join us as Dr. O'Neill dives deeper into the role of repeats in our genome and shares insights into how this knowledge could revolutionize our understanding of human genetics and health.
Keywords: Human genome, repetitive elements, transposable elements, repeat expansions, long-read sequencing, CHM13, epigenetics, transcriptional profiles, repeat divergence, CpG methylation, DNA methylation, genomic innovations.
https://doi.org/10.1126/science.abk3112