Long-read sequencing of diverse brains reveals how structural variations affect gene expression and DNA methylation
Center for Alzheimer’s and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
2024
n=351
publication
10 minutes
Evidence: high
Billingsley Kimberley J., Meredith Melissa, Daida Kensuke, Jerez Pilar Alvarez, Negi Shloka, Malik Laksh, Genner Rylee M., Moller Abraham, Zheng Xinchang, Gibson Sophia B., Mastoras Mira, Baker Breeana, Kouam Cedric, Paquette Kimberly, Jarreau Paige, Makarious Mary B., Moore Anni, Hong Samantha, Vitale Dan, Shah Syed, Monlong Jean, Pantazis Caroline B., Asri Mobin, Shafin Kishwar, Carnevali Paolo, Marenco Stefano, Auluck Pavan, Mandal Ajeet, Miga Karen H., Rhie Arang, Reed Xylena, Ding Jinhui, Cookson Mark R., Nalls Mike, Singleton Andrew, Miller Danny E., Chaisson Mark, Timp Winston, Gibbs J.Raphael, Phillippy Adam M., Kolmogorov Mikhail, Jain Miten, Sedlazeck Fritz J., Paten Benedict, Blauwendraat Cornelis
Title
Long-read sequencing of diverse brains reveals how structural variations affect gene expression and DNA methylation
Hypothesis
How do structural variants influence gene expression and DNA methylation in the human brain?
Conclusion
The study shows that long-read sequencing can uncover complex regulatory mechanisms in the brain that were previously inaccessible.