Scalable nanopore sequencing for Alzheimer’s research

Kimberley Billingsley and Pilar Alvarez Jerez, from Center for Alzheimer’s and Related Dementias, National Institutes of Health (NIH), introduced the NIH Center for Alzheimer’s and Related Dementias (CARD) long-read sequencing initiative, which will generate a new genetic resource for Alzheimer’s and related dementias from thousands of human brain samples. They presented a wet-lab protocol that was developed for high-throughput DNA extraction, processing, and nanopore sequencing. They also demonstrated how to run a scalable computational pipeline in the Terra workspace that outputs small variants, structural variants, and haplotype-resolved assemblies.

Meet the speakers

Kimberley Billingsley is a Postdoctoral Research Fellow at NIH leading the long read sequencing team at the Center for Alzheimer’s and Related Dementias. Her work focuses on generating large-scale high value datasets to study the impact of structural variation in neurodegenerative diseases. Kimberley obtained her PhD from the University of Liverpool studying the role of transposable elements in Parkinson's disease.

Pilar Alvarez Jerez is a PhD student within the long read team at the Center for Alzheimer’s and Related Dementias (CARD), NIH. Her current work focuses on using long read technologies to identify the role of structural variants on gene expression and methylation within neurodegenerative diseases, most notably Parkinson’s disease and Alzheimer’s disease. Before coming to NIH, Pilar got her Bachelor’s in Applied Physiology and Kinesiology from the University of Florida.