Author

E. E. Eichler

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Evolutionary Biology· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:chromatin & epigenetic regulation· 2 Approach:experimental assay· 2 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Assay:ChIP-seq· 1 Approach:deep learning· 1 Assay:DNA methylation· 1

Frequent Co-Authors

A. C. Lima· 1 shared A. M. Stendahl· 1 shared A. Quinlan· 1 shared All of Us Research Program Long Read Working Group· 1 shared B. Ndjamen· 1 shared C. E. Layman· 1 shared D. F. Conrad· 1 shared D. K. Chan· 1 shared

Activity by Year

2023-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 18 mutual co-author links

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1 shared paperEvolutionary Biology

A. C. Lima

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Evolution-guided association mapping using long-read genomes from a self-identified Black or African American cohort in All of Us

N. Soisangwan, K. V. Garimella, M. C. Schatz, E. E. Eichler, F. J. Sedlazeck, M. E. Talkowski, F. Cunial, S. K. Lee, All of Us Research Program Long Read Working Group, PingHsun Hsieh

This study uses long-read genomes from a Black or African American cohort to identify genomic regions under recent positive selection and their associations with phenotypes.

medRxiv · Nov 4, 2026 · PreprintGenetic & Genomic Medicine

Effects of parental age and polymer composition on short tandem repeat de novo mutation rates

M. E. Goldberg, M. D. Noyes, E. E. Eichler, A. Quinlan, K. Harris

The paper investigates how parental age and STR composition affect de novo mutation rates, finding that maternal age influences STR mutations even when oocytes are not replicating.

bioRxiv · Dec 22, 2023 · PreprintEvolutionary Biology

TAD Evolutionary and functional characterization reveals diversity in mammalian TAD boundary properties and function

M. Okhovat, J. VanCampen, A. C. Lima, K. Nevonen, C. E. Layman, S. Ward, J. Herrera, A. M. Stendahl, R. Yang, L. Harshman, W. Li, R. R. Sheng, Y. Mao, L. Fedorov, B. Ndjamen, , L. Carbone

The paper analyzes TAD boundaries across species to show evolutionary conservation and functional significance, finding ultraconserved boundaries have stronger insulation and CTCF binding.

bioRxiv · Mar 7, 2023Evolutionary Biology