Author

Robert S. Fulton

3 papers indexed here

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Open access Oct 2026

A pangenomic method for establishing a synthetic somatic variant resource in HapMap mixtures.

Evaluating multiple callers showed that telomere-to-telomere CHM13 alignment improves structural variant detection and offers advantages in difficult-to-map regions compared to GRCh38, and a binomial-based model was developed to estimate coverage requirements for variant detection.

Nahyun Kong, Zi-Tian Tang, Andrew Ruttenberg et al. · Cell Genomics · 1 citation

Open access Oct 2026

Detecting low-allele-fraction mosaic mutations: A multi-institution benchmarking with cell-line mixtures.

This work establishes a framework and best practices for reliably detecting low-VAF mutations in non-cancer tissues and provides a valuable resource for the community.

Y.-J. Ha, Dominika Maziec, J. Markowski et al. · Cell Genomics · 2 citations

Open access Aug 2026

Human panepigenome represents epigenomic diversity

The human pangenome captures genetic diversity beyond a single linear reference, yet conventional DNA methylome maps largely assume that the underlying CpG substrate is fixed. Here we present a first draft of the human panepigenome on DNA methylation, generated from 440 haplotype-resolved long-read methylomes spanning...

Zheng Dong, Juan F. Macias-Velasco, X. Zhuo et al. · bioRxiv · 0 citations