Author

S. C. Lee

Pacific Biosciences (United States)ORCID 0000-0002-1741-0052Unclaimed ORCID profile · follow to get notified of new preprints

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Biology Disciplines

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Genomics· 2

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 2 Assay:whole-genome sequencing· 2 Research Focus:database / resource· 1 Approach:deep learning· 1 Organism:human· 1 Organism:multiple species· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Aaron R. QuinlaniD· 1 shared Andrea GuarracinoiD· 1 shared Andrew W. CarrolliD· 1 shared Cairbre Fanslow· 1 shared Christine C. Lambert· 1 shared Christopher T. SaundersiD· 1 shared Cillian NolaniD· 1 shared Cody J. SteelyiD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Aaron R. QuinlanORCID

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2 papers

Recent·Most cited

Somatic and germline mutational processes across the tree of life

S. C. Lee, Yichen Wang, Heaton Haynes, Emily Mitchell, Mark Maddison, Liam M Crowley, Patrick Adkins, Nova Mieszkowska, Mark Blaxter, Richard Michael Durbin, Peter J. Campbell

This study identifies somatic and germline mutational signatures across 661 species, revealing greater diversity than in human samples, likely due to environmental or biological factors.

bioRxiv · Dec 30, 2025 · PreprintGenomics

The Platinum Pedigree: A long-read benchmark for genetic variants

Zev N. Kronenberg, Cillian Nolan, David Porubskỳ, Tom Mokveld, William J. Rowell, S. Y. Lee, Egor Dolzhenko, Pi-Chuan Chang, James Holt, Christopher T. Saunders, Nathan D. Olson, Cody J. Steely, Sean R. McGee, Andrea Guarracino, Nidhi Koundinya, , Michael A. Eberle

The paper creates a long-read benchmark for genetic variants using a large pedigree, improving variant calling performance and introducing new truth sets for tandem repeats and structural variants.

Nature Methods · Aug 1, 2025Peer-reviewedGenomics