Germline chromothripsis: Integration of Hi-C and long-read sequencing reveals the structure of highly rear-ranged chromosomes

被引：0

作者：

Schopflin, R. ^{[1
,2
]}

Melo, U. Souto ^{[1
,2
]}

Heller, D. ^{[3
]}

Jungnitsch, J. ^{[1
,2
]}

Klever, M. ^{[1
,2
]}

Holtgrewe, M. ^{[4
,5
]}

Comak, E. ^{[3
]}

Heinrich, V. ^{[3
]}

Herztberg, J. ^{[1
,2
,3
]}

Acuna-Hidalgo, R. ^{[1
,2
]}

Turkmen, S. ^{[1
]}

Bugge, M. ^{[6
]}

Vogel, I. ^{[7
]}

Beensen, V. ^{[8
]}

Barbi, G. ^{[9
]}

Prager, B. ^{[10
]}

Latos-Bielenska, A. ^{[11
,12
]}

Tommerup, N. ^{[6
]}

Kalscheuer, V. M. ^{[2
]}

Spielmann, M. ^{[1
,2
]}

Vingron, M. ^{[3
]}

Mundlos, S. ^{[1
,2
]}

机构：

[1] Charite Univ Med Berlin, Inst Med & Human Genet, Berlin, Germany

[2] Max Planck Inst Mol Genet, RG Dev Dis, Berlin, Germany

[3] Max Planck Inst Mol Genet, Dept Computat Mol Biol, Berlin, Germany

[4] Berlin Inst Hlth, Core Unit Bioinformat, Berlin, Germany

[5] Charite Univ Med Berlin, Berlin, Germany

[6] Univ Copenhagen, Dept Cellular & Mol Med, Wilhelm Johannsen Ctr Funct Genome Res, Copenhagen, Denmark

[7] Aarhus Univ Hosp, Dept Clin Genet, Aarhus, Denmark

[8] Friedrich Schiller Univ, Inst Human Genet & Anthropol, Jena, Germany

[9] Univ Klinikum Ulm, Inst Humangenet, Ulm, Germany

[10] Kinderzentrum Dresden Friedrichstadt, Dresden, Germany

[11] Poznan Univ Med Sci, Dept Med Genet, Poznan, Poland

[12] Ctr Med Genet GENESIS, Poznan, Poland

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2020年 / 28卷 / SUPPL 1期

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P13.17.A

引用

页码：566 / 567

页数：2

共 38 条

[1] Integration of Hi-C and long-read sequencing reveals the structure of highly rearranged chromosomes in patients with germline-chromothripsis
Schoepflin, Robert
Melo, Uira Souto
Moeinzadeh, Hossein
Heller, David
Heinrich, Verena
Herztberg, Jakob
Robson, Michael
Ringel, Alessa
Chudzik, Konrad
Holtgrewe, Manuel
Alavi, Nico
Klever, Marius-Konstantin
Jungnitsch, Julius
Comak, Emel
Tuerkmen, Seval
Duffourd, Yannis
Faivre, Laurence
Zuffardi, Orsetta
Tenconi, Romano
Kurtas, Nehir Edibe
Giglio, Sabrina
Beensen, Volkmar
Barbi, Gotthold
Prager, Bettina
Latos-Bielenska, Anna
Vogel, Ida
Bugge, Merete
Tommerup, Niels
Spielmann, Malte
Kalscheuer, Vera M.
Vitobello, Antonio
Vingron, Martin
Mundlos, Stefan
EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 82 - 82
[2] Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes
Robert Schöpflin
Uirá Souto Melo
Hossein Moeinzadeh
David Heller
Verena Laupert
Jakob Hertzberg
Manuel Holtgrewe
Nico Alavi
Marius-Konstantin Klever
Julius Jungnitsch
Emel Comak
Seval Türkmen
Denise Horn
Yannis Duffourd
Laurence Faivre
Patrick Callier
Damien Sanlaville
Orsetta Zuffardi
Romano Tenconi
Nehir Edibe Kurtas
Sabrina Giglio
Bettina Prager
Anna Latos-Bielenska
Ida Vogel
Merete Bugge
Niels Tommerup
Malte Spielmann
Antonio Vitobello
Vera M. Kalscheuer
Martin Vingron
Stefan Mundlos
Nature Communications, 13
[3] Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes
Schoepflin, Robert
Melo, Uira Souto
Moeinzadeh, Hossein
Heller, David
Laupert, Verena
Hertzberg, Jakob
Holtgrewe, Manuel
Alavi, Nico
Klever, Marius-Konstantin
Jungnitsch, Julius
Comak, Emel
Tuerkmen, Seval
Horn, Denise
Duffourd, Yannis
Faivre, Laurence
Callier, Patrick
Sanlaville, Damien
Zuffardi, Orsetta
Tenconi, Romano
Kurtas, Nehir Edibe
Giglio, Sabrina
Prager, Bettina
Latos-Bielenska, Anna
Vogel, Ida
Bugge, Merete
Tommerup, Niels
Spielmann, Malte
Vitobello, Antonio
Kalscheuer, Vera M.
Vingron, Martin
Mundlos, Stefan
NATURE COMMUNICATIONS, 2022, 13 (01)
[4] AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology
Klever, Marius-Konstantin
Straeng, Eric
Hetzel, Sara
Jungnitsch, Julius
Dolnik, Anna
Schoepffin, Robert
Schrezenmeier, Jens-Florian
Schick, Felix
Blau, Olga
Westermann, Joerg
Ruecker, Frank G.
Xia, Zuyao
Doehner, Konstanze
Schrezenmeier, Hubert
Spielmann, Malte
Meissner, Alexander
Melo, Uira Souto
Mundlos, Stefan
Bullinger, Lars
BLOOD ADVANCES, 2023, 7 (21) : 6520 - 6531
[5] Chromosome-scale assembly of the Sparassis latifolia genome obtained using long-read and Hi-C sequencing
Yang, Chi
Ma, Lu
Xiao, Donglai
Liu, Xiaoyu
Jiang, Xiaoling
Ying, Zhenghe
Lin, Yanquan
G3-GENES GENOMES GENETICS, 2021, 11 (08):
[6] Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome
Bestetti, Ilaria
Crippa, Milena
Sironi, Alessandra
Bellini, Matteo
Tumiatti, Francesca
Ballabio, Sara
Ceriotti, Ferruccio
Memo, Luigi
Iascone, Maria
Larizza, Lidia
Finelli, Palma
FRONTIERS IN GENETICS, 2024, 15
[7] Integration of Hi-C and Nanopore Sequencing for Structural Variant Analysis in AML with a Complex Karyotype: (Chromothripsis)2
Klever, Marius-Konstantin
Strang, Eric
Jungnitsch, Julius
Melo, Uira Souto
Hetzel, Sara
Dolnik, Anna
Schopflin, Robert
Schrezenmeier, Jens F.
Blau, Olga
Westermann, Jorg
Dohner, Konstanze
Schrezenmeier, Hubert
Spielmann, Malte
Meissner, Alexander
Mundlos, Stefan
Bullinger, Lars
BLOOD, 2020, 136
[8] MetaCC allows scalable and integrative analyses of both long-read and short-read metagenomic Hi-C data
Du, Yuxuan
Sun, Fengzhu
NATURE COMMUNICATIONS, 2023, 14 (01)
[9] MetaCC allows scalable and integrative analyses of both long-read and short-read metagenomic Hi-C data
Yuxuan Du
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Nature Communications, 14
[10] Extended haplotype-phasing of long-read de novo genome assemblies using Hi-C
Zev N. Kronenberg
Arang Rhie
Sergey Koren
Gregory T. Concepcion
Paul Peluso
Katherine M. Munson
David Porubsky
Kristen Kuhn
Kathryn A. Mueller
Wai Yee Low
Stefan Hiendleder
Olivier Fedrigo
Ivan Liachko
Richard J. Hall
Adam M. Phillippy
Evan E. Eichler
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Timothy P. L. Smith
Erich D. Jarvis
Shawn T. Sullivan
Sarah B. Kingan
Nature Communications, 12

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