Miller, Danny E.

The complete sequence of a human genome

Nurk, S., Koren, S., Rhie, A., Rautiainen, M., Bzikadze, A. V., Mikheenko, A., Vollger, M. R., Altemose, N., Uralsky, L., Gershman, A., et al. (2022) · Science

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

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A complete reference genome improves analysis of human genetic variation

Aganezov, S., Yan, S. M., Soto, D. C., Kirsche, M., Zarate, S., Avdeyev, P., Taylor, D. J., Shafin, K., Shumate, A., Xiao, C., et al. (2022) · Science

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

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Curated variation benchmarks for challenging medically relevant autosomal genes

Wagner, J., Olson, N. D., Harris, L., McDaniel, J., Cheng, H., Fungtammasan, A., Hwang, Y.-C., Gupta, R., Wenger, A. M., Rowell, W. J., et al. (2022) · Nature Biotechnology

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

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Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

LaFlamme, C. W., Rastin, C., Sengupta, S., Pennington, H. E., Russ-Hall, S. J., Schneider, A. L., Bonkowski, E. S., Almanza Fuerte, E. P., Allan, T. J., Zalusky, M. P.-G., et al. (2024) · Nature Communications

Epilepsy research and treatmentEpigenetics and DNA Methylation

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