Author

Evgenia D. Pak

National Institutes of Health

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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Genetics· 2 Genomics· 2 Bioinformatics· 1

Signature Assays, Organisms & Methods

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Organism:human· 5 Approach:statistical model· 3 Assay:bulk RNA-seq· 2 Research Focus:differential expression· 2 Approach:experimental assay· 2 Assay:whole-genome sequencing· 2 Assay:ATAC-seq· 1 Assay:ChIP-seq· 1

Frequent Co-Authors

Amalia Dutra· 5 shared Adam M. PhillippyiD· 2 shared Adrianna K. San RomaniD· 2 shared Alexander K. GodfreyiD· 2 shared Alice YoungiD· 2 shared Arang RhieiD· 2 shared Ashley J. BuscettaiD· 2 shared Benedict PateniD· 2 shared

Activity by Year

2018-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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5 shared papersGenomics

Amalia Dutra

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Author profile →

5 papers

Recent·Most cited

The Complete Sequence and Comparative Analysis of Ape Sex Chromosomes

Kateryna D. Makova, Brandon D. Pickett, Robert S. Harris, Gabrielle A. Hartley, Monika Čechová, Karol Pál, Sergey Nurk, DongAhn Yoo, Qiuhui Li, Prajna Hebbar, Barbara C. McGrath, Francesca Antonacci, Margaux Aubel, Arjun Biddanda, Matthew Borchers, , Adam M. Phillippy

The paper produces gapless assemblies of ape sex chromosomes for five great apes and a lesser ape, revealing divergence in Y chromosomes and evolutionary dynamics.

Nature · May 29, 2024Peer-reviewedGenomics

The human Y and inactive X chromosomes similarly modulate autosomal gene expression

Adrianna K. San Roman, Helen Skaletsky, Alexander K. Godfrey, Neha V. Bokil, Levi S. Teitz, Isani Singh, Laura V. Blanton, Daniel W. Bellott, Tatyana Pyntikova, Julian Lange, Natalia Koutseva, Jennifer F. Hughes, Laura G. Brown, Sidaly Phou, Ashley J. Buscetta, , David C. Page

The paper shows that the inactive X and Y chromosomes similarly affect autosomal gene expression in human cells through shared transcription factors.

Cell Genomics · Dec 13, 2023Peer-reviewedGenetics

The human inactive X chromosome modulates expression of the active X chromosome

Adrianna K. San Roman, Alexander K. Godfrey, Helen Skaletsky, Daniel W. Bellott, Abigail F. Groff, Hannah L. Harris, Laura V. Blanton, Jennifer F. Hughes, Laura G. Brown, Sidaly Phou, Ashley J. Buscetta, Paul S. Kruszka, Nicole Banks, Amalia Dutra, Evgenia D. Pak, , David C. Page

The paper shows that the inactive X chromosome modulates the expression of the active X chromosome in humans, affecting 38% of X-linked genes and contributing to sex differences in disease.

Cell Genomics · Feb 1, 2023Peer-reviewedGenetics

Telomere-to-telomere assembly of a complete human X chromosome

Karen H. Miga, Sergey Koren, Arang Rhie, Mitchell Robert Vollger, Ariel Gershman, Andrey V. Bzikadze, Shelise Y. Brooks, Edmund Howe, David Porubskỳ, Glennis A. Logsdon, Valérie Schneider, Tamara Potapova, Jonathan M. D. Wood, William Chow, Joel C. Armstrong, , Adam M. Phillippy

The paper presents a gapless, telomere-to-telomere assembly of the human X chromosome using ultra-long-read nanopore sequencing and complementary technologies.

Nature · Jul 14, 2020Peer-reviewedBioinformatics

EndoC-βH1 multi-genomic profiling defines gene regulatory programs governing human pancreatic β cell identity and function

Nathan T Lawlor, Eladio J. Márquez, Peter Orchard, Narisu Narisu, Muhammad S. Shamim, Asa Thibodeau, Arushi Varshney, Romy Kursawe, Michael R. Erdos, Matt Kanke, Huiya Gu, Evgenia D. Pak, Amalia Dutra, Sheikh Russell, Xingwang Li, , Michael L. Stitzel

The paper provides multi-genomic maps of the EndoC-βH1 cell model to define gene regulatory programs in human pancreatic β cells and identifies allelic effects on cis-regulatory elements.

bioRxiv · Aug 23, 2018 · PreprintGenomics