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Evan E. Eichler
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Displaying results 1-10 of
79
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Research
:
Epigenetic and evolutionary features of ape subterminal heterochromatin
DongAhn Yoo
,
Katherine M. Munson
,
and
Evan E. Eichler
Genome Res.
January 2026
36
:
38
-
49
;
Published in Advance
October 22, 2025
,
doi:
10.1101/gr.280987.125
Abstract
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Method
:
Highly accurate assembly polishing with DeepPolisher
Mira Mastoras
,
Mobin Asri
,
Lucas Brambrink
,
Prajna Hebbar
,
Alexey Kolesnikov
,
Daniel E. Cook
,
Maria Nattestad
,
Julian Lucas
,
Taylor S. Won
,
Pi-Chuan Chang
,
Andrew Carroll
,
Benedict Paten
,
Kishwar Shafin
,
and
and the Human Pangenome Reference Consortium
Genome Res.
July 2025
35
:
1595
-
1608
;
Published in Advance
May 19, 2025
,
doi:
10.1101/gr.280149.124
Abstract
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Resource
:
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
,
Human Genome Structural Variation Consortium (HGSVC)
,
HGSVC Functional Analysis Working Group
,
Mark B. Gerstein
,
Michael C. Zody
,
Mark J.P. Chaisson
,
Michael E. Talkowski
,
Tobias Marschall
,
Jan O. Korbel
,
Evan E. Eichler
,
Charles Lee
,
and
Xinghua Shi
Genome Res.
December 2024
34
:
2304
-
2318
;
Published in Advance
December 5, 2024
,
doi:
10.1101/gr.279419.124
Abstract
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Resource
:
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
,
The 1000 Genomes ONT Sequencing Consortium
,
University of Washington Center for Rare Disease Research (UW-CRDR)
,
Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium
,
William Richard McCombie
,
Fritz J. Sedlazeck
,
Justin M. Zook
,
Stephen B. Montgomery
,
Erik Garrison
,
Mikhail Kolmogorov
,
Michael C. Schatz
,
Richard N. McLaughlin, Jr.
,
Harriet Dashnow
,
Michael C. Zody
,
Matt Loose
,
Miten Jain
,
Evan E. Eichler
,
and
Danny E. Miller
Genome Res.
November 2024
34
:
2061
-
2073
;
Published in Advance
October 2, 2024
,
doi:
10.1101/gr.279273.124
Abstract
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Research
:
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
,
Jordan Knuth
,
Stephen Chang
,
Tomi Pastinen
,
and
Evan E. Eichler
Genome Res.
November 2024
34
:
1798
-
1810
;
Published in Advance
August 6, 2024
,
doi:
10.1101/gr.279299.124
Abstract
Full Text
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Research
:
AGAP
duplicons associate with structural diversity at Chromosome 10q11.22
Stefania Fornezza
,
Vincenza Simona Delvecchio
,
William T. Harvey
,
Philip C. Dishuck
,
Evan E. Eichler
,
and
Giuliana Giannuzzi
Genome Res.
October 2024
34
:
1487
-
1499
;
Published in Advance
September 25, 2024
,
doi:
10.1101/gr.279454.124
Abstract
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Method
:
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
,
Bruce Martin
,
Paolo Carnevali
,
Karen H. Miga
,
and
Benedict Paten
Genome Res.
March 2024
34
:
454
-
468
;
Published in Advance
April 16, 2024
,
doi:
10.1101/gr.278268.123
Abstract
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Research
:
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
,
Christine R. Beck
,
Tobias Marschall
,
Kiran Garimella
,
and
Evan E. Eichler
Genome Res.
December 2023
33
:
2029
-
2040
;
Published in Advance
December 7, 2023
,
doi:
10.1101/gr.278070.123
Abstract
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Research
:
Gaps and complex structurally variant loci in phased genome assemblies
David Porubsky
,
Mitchell R. Vollger
,
William T. Harvey
,
Allison N. Rozanski
,
Peter Ebert
,
Glenn Hickey
,
Patrick Hasenfeld
,
Ashley D. Sanders
,
Catherine Stober
,
Human Pangenome Reference Consortium
,
Jan O. Korbel
,
Benedict Paten
,
Tobias Marschall
,
and
Evan E. Eichler
Genome Res.
April 2023
33
:
496
-
510
;
Published in Advance
May 10, 2023
,
doi:
10.1101/gr.277334.122
Abstract
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In memoriam
:
C. Thomas Caskey (1938–2022)
Richard A. Gibbs
,
Aravinda Chakravarti
,
Evan E. Eichler
,
Eric D. Green
,
Richard M. Myers
,
Anne C. Ferguson-Smith
,
Kateryna D. Makova
,
and
Hillary E. Sussman
Genome Res.
March 2022
32
:
vii
-
viii
;
Published in Advance
February 17, 2022
,
doi:
10.1101/gr.276658.122
Extract
Full Text
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Single-cell gene signature scoring
Chromosome engineering in 8p syndrome
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Short tandem repeat genotyping using long reads
Spectral component approach for recent population structure
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