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David Porubsky
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author
.
Displaying results 1-6 of
6
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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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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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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
Full Text
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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
Full Text
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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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Resource
:
Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution
Flavia Angela Maria Maggiolini
,
Ashley D. Sanders
,
Colin James Shew
,
Arvis Sulovari
,
Yafei Mao
,
Marta Puig
,
Claudia Rita Catacchio
,
Maria Dellino
,
Donato Palmisano
,
Ludovica Mercuri
,
Miriana Bitonto
,
David Porubský
,
Mario Cáceres
,
Evan E. Eichler
,
Mario Ventura
,
Megan Y. Dennis
,
Jan O. Korbel
,
and
Francesca Antonacci
Genome Res.
November 2020
30
:
1680
-
1693
;
Published in Advance
October 22, 2020
,
doi:
10.1101/gr.265322.120
Abstract
Full Text
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