From cytogenetics to cytogenomics: whole genome sequencing as a comprehensive genetic test in rare disease diagnostics

被引：0
|
作者：
Nilsson, D. [1 ,2 ,3 ]
Eisfeldt, J. [1 ,2 ,3 ]
Lundin, J. [1 ,3 ,4 ]
Pettersson, M. [1 ,3 ,5 ]
Kvarnung, M. [1 ,3 ,5 ]
Lieden, A. [1 ,3 ,5 ]
Sahlin, E. [1 ,3 ,5 ]
Lagerstedt, K. [1 ,3 ,5 ]
Martin, M. [6 ]
Ygberg, S. [7 ,8 ]
Bjerin, O. [7 ]
Stranneheim, H. [2 ,3 ,8 ]
Wedell, A. [2 ,3 ,8 ]
Nordenskjold, M. [1 ,3 ,5 ]
Soller, M. Johansson [1 ,3 ,5 ]
Nordgren, A. [1 ,3 ,5 ]
Wirta, V. [9 ,10 ]
Lindstrand, A. [1 ,3 ,5 ]
机构：
[1] Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden
[2] Karolinska Inst, Dept Mol Med & Surg, SciLifeLab, Stockholm, Sweden
[3] Karolinska Inst, Ctr Mol Med, Stockholm, Sweden
[4] Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden
[5] Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden
[6] Stockholm Univ, Natl Bioinformat Infrastruct Sweden, Sci Life Lab, Dept Biochem & Biophys, Solna, Sweden
[7] Karolinska Inst, Inst Womens & Childrens Hlth, Neuropediat Unit, Stockholm, Sweden
[8] Karolinska Univ Hosp, Ctr Inherited Metab Dis, Stockholm, Sweden
[9] KTH Royal Inst Technol, Sch Engn Sci Chem Biotechnol & Hlth, SciLifeLab, Stockholm, Sweden
[10] Karolinska Inst, Dept Microbiol Tumor & Cell Biol, SciLifeLab, Stockholm, Sweden
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27卷
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：
P14.113D
引用
收藏
页码：1666 / 1667
页数：2
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