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Erratum: Expanded methylome and quantitative trait loci detection by long-read profiling of personal DNA

Cristian Groza
Bing Ge
Warren A. Cheung
Tomi Pastinen
Guillaume Bourque

First Published March 2, 2026

Read-level genotyping of short tandem repeats using long reads and single-nucleotide variation with STRkit

David R. Lougheed
Tomi Pastinen
Guillaume Bourque

First Published January 15, 2026

Epigenetic and evolutionary features of ape subterminal heterochromatin

DongAhn Yoo
Katherine M. Munson
Evan E. Eichler

First Published October 22, 2025

Expanded methylome and quantitative trait loci detection by long-read profiling of personal DNA

Cristian Groza
Bing Ge
Warren A. Cheung
Tomi Pastinen
Guillaume Bourque

First Published March 20, 2025

An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes

Chong Li
Marc Jan Bonder
Sabriya Syed
Matthew Jensen
Mark B. Gerstein
Michael C. Zody Mark J.P. Chaisson Michael E. Talkowski Tobias Marschall
... [+4 authors] ...,
Jan O. Korbel
Evan E. Eichler
Charles Lee
Xinghua Shi

First Published December 5, 2024

High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation

Jonas A. Gustafson
Sophia B. Gibson
Nikhita Damaraju
Miranda P.G. Zalusky
Kendra Hoekzema
David Twesigomwe Lei Yang Anthony A. Snead Phillip A. Richmond Wouter De Coster Nathan D. Olson Andrea Guarracino Qiuhui Li Angela L. Miller Joy Goffena Zachary B. Anderson Sophie H.R. Storz Sydney A. Ward Maisha Sinha Claudia Gonzaga-Jauregui Wayne E. Clarke Anna O. Basile André Corvelo Catherine Reeves Adrienne Helland Rajeeva Lochan Musunuri Mahler Revsine Karynne E. Patterson Cate R. Paschal Christina Zakarian Sara Goodwin Tanner D. Jensen Esther Robb William Richard McCombie Fritz J. Sedlazeck Justin M. Zook Stephen B. Montgomery Erik Garrison Mikhail Kolmogorov Michael C. Schatz Richard N. McLaughlin Harriet Dashnow Michael C. Zody
... [+38 authors] ...,
Matt Loose
Miten Jain
Evan E. Eichler
Danny E. Miller

First Published October 2, 2024

AGAP duplicons associate with structural diversity at Chromosome 10q11.22" > AGAP duplicons associate with structural diversity at Chromosome 10q11.22

Stefania Fornezza
Vincenza Simona Delvecchio
William T. Harvey
Philip C. Dishuck
Evan E. Eichler
Giuliana Giannuzzi

First Published September 25, 2024

TBC1D3 gene family in humans" > Independent expansion, selection, and hypervariability of the TBC1D3 gene family in humans

Xavi Guitart
David Porubsky
DongAhn Yoo
Max L. Dougherty
Philip C. Dishuck
Katherine M. Munson Alexandra P. Lewis Kendra Hoekzema
... [+3 authors] ...,
Jordan Knuth
Stephen Chang
Tomi Pastinen
Evan E. Eichler

First Published August 6, 2024

Phased nanopore assembly with Shasta and modular graph phasing with GFAse

Ryan Lorig-Roach
Melissa Meredith
Jean Monlong
Miten Jain
Hugh E. Olsen
Brandy McNulty David Porubsky Tessa G. Montague Julian K. Lucas Chris Condon Jordan M. Eizenga Sissel Juul Sean K. McKenzie Sara E. Simmonds Jimin Park Mobin Asri Sergey Koren Evan E. Eichler Richard Axel
... [+14 authors] ...,
Bruce Martin
Paolo Carnevali
Karen H. Miga
Benedict Paten

First Published April 16, 2024

Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall

William T. Harvey
Peter Ebert
Jana Ebler
Peter A. Audano
Katherine M. Munson
Kendra Hoekzema David Porubsky
... [+2 authors] ...,
Christine R. Beck
Tobias Marschall
Kiran Garimella
Evan E. Eichler

First Published December 7, 2023

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