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London Calling 2024 - Speakers

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Oxford Nanopore Technologies

Sophia Gibson

Sophia Gibson
Job title
Institution
University of Washington, USA
Biography

Sophia Gibson is a second-year PhD student in the Department of Genome Sciences at the University of Washington. Sophia’s dissertation work is undertaken in Dr. Danny Miller’s lab where she focuses on the applications of long-read sequencing to improve the diagnostic rate of rare Mendelian disorders — particularly those caused by tandem repeat expansions as well as imprinting and X-linked disorders. This is mainly through the development of interactive web-based tools and analysis pipelines.

Recent publications

Gustafson, J. et al. (2024). Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation. medRxiv. 03.05.24303792 (2024). DOI: 10.1101/2024.03.05.24303792.

Talks at this conference

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