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Li Heng
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Method
:
Long-read reconstruction of many diverse haplotypes with devider
Jim Shaw
,
Christina Boucher
,
Yun William Yu
,
Noelle Noyes
,
and
Heng Li
Genome Res.
December 2025
35
:
2637
-
2649
;
Published in Advance
September 23, 2025
,
doi:
10.1101/gr.280510.125
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
Full Text
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Method
:
Full-resolution HLA and KIR gene annotations for human genome assemblies
Ying Zhou
,
Li Song
,
and
Heng Li
Genome Res.
November 2024
34
:
1931
-
1941
;
Published in Advance
June 5, 2024
,
doi:
10.1101/gr.278985.124
Abstract
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Method
:
De novo reconstruction of satellite repeat units from sequence data
Yujie Zhang
,
Justin Chu
,
Haoyu Cheng
,
and
Heng Li
Genome Res.
November 2023
33
:
1994
-
2001
;
Published in Advance
November 2, 2023
,
doi:
10.1101/gr.278005.123
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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Method
:
Efficient and accurate KIR and HLA genotyping with massively parallel sequencing data
Li Song
,
Gali Bai
,
X. Shirley Liu
,
Bo Li
,
and
Heng Li
Genome Res.
May 11, 2023
gr.277585.122
;
Published in Advance
May 11, 2023
,
doi:
10.1101/gr.277585.122
Abstract
Full Text (PDF)
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Resource
:
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
Valerie A. Schneider
,
Tina Graves-Lindsay
,
Kerstin Howe
,
Nathan Bouk
,
Hsiu-Chuan Chen
,
Paul A. Kitts
,
Terence D. Murphy
,
Kim D. Pruitt
,
Françoise Thibaud-Nissen
,
Derek Albracht
,
Robert S. Fulton
,
Milinn Kremitzki
,
Vincent Magrini
,
Chris Markovic
,
Sean McGrath
,
Karyn Meltz Steinberg
,
Kate Auger
,
William Chow
,
Joanna Collins
,
Glenn Harden
,
Timothy Hubbard
,
Sarah Pelan
,
Jared T. Simpson
,
Glen Threadgold
,
James Torrance
,
Jonathan M. Wood
,
Laura Clarke
,
Sergey Koren
,
Matthew Boitano
,
Paul Peluso
,
Heng Li
,
Chen-Shan Chin
,
Adam M. Phillippy
,
Richard Durbin
,
Richard K. Wilson
,
Paul Flicek
,
Evan E. Eichler
,
and
Deanna M. Church
Genome Res.
May 2017
27
:
849
-
864
;
Published in Advance
April 10, 2017
,
doi:
10.1101/gr.213611.116
Abstract
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Resource
:
SOAPindel: Efficient identification of indels from short paired reads
Shengting Li
,
Ruiqiang Li
,
Heng Li
,
Jianliang Lu
,
Yingrui Li
,
Lars Bolund
,
Mikkel H. Schierup
,
and
Jun Wang
Genome Res.
January 2013
23
:
195
-
200
;
Published in Advance
September 12, 2012
,
doi:
10.1101/gr.132480.111
Abstract
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RESOURCE
:
EnsemblCompara GeneTrees: Complete, duplication-aware phylogenetic trees in vertebrates
Albert J. Vilella
,
Jessica Severin
,
Abel Ureta-Vidal
,
Li Heng
,
Richard Durbin
,
and
Ewan Birney
Genome Res.
February 2009
19
:
327
-
335
;
Published in Advance
November 24, 2008
,
doi:
10.1101/gr.073585.107
Abstract
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RESOURCE
:
Mapping short DNA sequencing reads and calling variants using mapping quality scores
Heng Li
,
Jue Ruan
,
and
Richard Durbin
Genome Res.
November 2008
18
:
1851
-
1858
;
Published in Advance
August 19, 2008
,
doi:
10.1101/gr.078212.108
Abstract
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OPEN ACCESS ARTICLE
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Single-cell gene signature scoring
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