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
收藏
页码：566 / 567
页数：2
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