Publications by authors named "Evan Eichler"

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Epigenetic and evolutionary features of ape subterminal heterochromatin.
DongAhn Yoo, Katherine M Munson, Evan E Eichler

Genome Res· December 2025

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Incomplete lineage sorting of segmental duplications defines the human chromosome 2 fusion site early during African great ape speciation.
Zikun Yang, Lu Zhang, Xinrui Jiang, Xiangyu Yang, Kaiyue Ma, Evan E Eichler

Cell Genom· December 2025

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Retroviral insertions contributed to the divergence of human and chimpanzee brains.
Patricia Gerdes, Ofelia Karlsson, Raquel Garza, Diahann A M Atacho, PingHsun Hsieh, Evan E Eichler

bioRxiv· December 2025

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needLR: Long-read structural variant annotation with population-scale frequency estimation.
Jonas A Gustafson, Jiadong Lin, Evan E Eichler, Danny E Miller

ArXiv· December 2025

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Human acrocentric chromosome short arm mutation and recombination.
Jiadong Lin, F Kumara Mastrorosa, Michelle D Noyes, DongAhn Yoo, Arang Rhie, Evan E Eichler

bioRxiv· December 2025

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Locityper enables targeted genotyping of complex polymorphic genes.
Timofey Prodanov, Elizabeth G Plender, Guiscard Seebohm, Sven G Meuth, Evan E Eichler

Nat Genet· November 2025

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GREGoR: accelerating genomics for rare diseases.
Moez Dawood, Ben Heavner, Marsha M Wheeler, Rachel A Ungar, Jonathan LoTempio, Evan E Eichler

Nature· November 2025

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Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, Amélie Bosc-Rosati, Tzung-Chien Hsieh, Evan E Eichler

Nat Commun· November 2025

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Structural variation, selection, and diversification of the NPIP gene family from the human pangenome.
Philip C Dishuck, Katherine M Munson, Alexandra P Lewis, Max L Dougherty, Jason G Underwood, Evan E Eichler

Cell Genom· October 2025

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The human IG heavy chain constant gene locus is enriched for large structural variants and coding polymorphisms that vary among human populations.
Uddalok Jana, Oscar L Rodriguez, William Lees, Eric Engelbrecht, Zach Vanwinkle, Evan E Eichler

Cell Genom· October 2025

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Population-scale Long-read Sequencing in the Research Program.
Kiran V Garimella, Qiuhui Li, Julie Wertz, Samuel K Lee, Fabio Cunial, Evan E Eichler

medRxiv· October 2025

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A telomere-to-telomere map of somatic mutation burden and functional impact in cancer.
Min-Hwan Sohn, Danilo Dubocanin, Mitchell R Vollger, Youngjun Kwon, Anna Minkina, Evan E Eichler

bioRxiv· October 2025

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Author Correction: Complex genetic variation in nearly complete human genomes.
Glennis A Logsdon, Peter Ebert, Peter A Audano, Mark Loftus, David Porubsky, Evan E Eichler

Nature· September 2025

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Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.
Kelsey Hennick, Yang Sui, Druha Karunakaran, Ally Nicollela, Rachel Leonard, Evan E Eichler

bioRxiv· September 2025

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A complete diploid human genome benchmark for personalized genomics.
Nancy F Hansen, Nathan Dwarshuis, Hyun Joo Ji, Arang Rhie, Hailey Loucks, Evan E Eichler

bioRxiv· September 2025

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Complex genetic variation in nearly complete human genomes.
Glennis A Logsdon, Peter Ebert, Peter A Audano, Mark Loftus, David Porubsky, Evan E Eichler

Nature· August 2025

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The Platinum Pedigree: a long-read benchmark for genetic variants.
Zev Kronenberg, Cillian Nolan, David Porubsky, Tom Mokveld, William J Rowell, Evan E Eichler

Nat Methods· August 2025

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The Somatic Mosaicism across Human Tissues Network.
Tim H H Coorens, Ji Won Oh, Yujin Angelina Choi, Nam Seop Lim, Boxun Zhao, Evan E Eichler

Nature· July 2025

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Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.
David Porubsky, DongAhn Yoo, Philip C Dishuck, Nidhi Koundinya, Erika Souche, Evan E Eichler

bioRxiv· July 2025

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Pangenome discovery of missing autism variants.
Yang Sui, Jiadong Lin, Michelle D Noyes, Youngjun Kwon, Isaac Wong, Evan E Eichler

medRxiv· July 2025

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Long-read sequencing of trios reveals increased germline and postzygotic mutation rates in repetitive DNA.
Michelle D Noyes, Yang Sui, Youngjun Kwon, Nidhi Koundinya, Isaac Wong, Evan E Eichler

bioRxiv· July 2025

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SVbyEye: a visual tool to characterize structural variation among whole-genome assemblies.
David Porubsky, Xavi Guitart, DongAhn Yoo, Philip C Dishuck, William T Harvey, Evan E Eichler

Bioinformatics· June 2025

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A haplotype-resolved view of human gene regulation.
Mitchell R Vollger, Elliott G Swanson, Shane J Neph, Jane Ranchalis, Katherine M Munson, Evan E Eichler

bioRxiv· June 2025

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A global map for introgressed structural variation and selection in humans.
PingHsun Hsieh, Natthapon Soisangwan, David S Gordon, Athef Javidh, William T Harvey, Evan E Eichler

bioRxiv· June 2025

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Epigenetic and evolutionary features of ape subterminal heterochromatin.
DongAhn Yoo, Katherine M Munson, Evan E Eichler

bioRxiv· May 2025

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