Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study

Yan Sun; Jianfen Man; Yang Wan; Gao Pan; Lique Du; Long Li; Yun Yang; Liru Qiu; Qing Gao; Handong Dan; Liangwei Mao; Zhengyu Cheng; Chen Fan; Jing Yu; Mufei Lin; Karsten Kristiansen; Yin Shen; Xiaoming Wei

doi:10.1038/s41598-018-30151-z

Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study

Yan Sun, Jianfen Man, Yang Wan, Gao Pan, Lique Du, Long Li, Yun Yang, Liru Qiu, Qing Gao, Handong Dan, Liangwei Mao, Zhengyu Cheng, Chen Fan, Jing Yu, Mufei Lin, Karsten Kristiansen, Yin Shen, Xiaoming Wei

Genome Research and Molecular Bio Medicine

3 Citations (Scopus)

52 Downloads (Pure)

Original language	English
Article number	11646
Journal	Scientific Reports
Volume	8
Pages (from-to)	1-9
ISSN	2045-2322
DOIs	https://doi.org/10.1038/s41598-018-30151-z
Publication status	Published - 1 Dec 2018

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10.1038/s41598-018-30151-zLicence: CC BY

Targeted next-generation sequencing as a comprehensive test for Mendelian diseasesFinal published version, 1.69 MBLicence: CC BY

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Sun, Y., Man, J., Wan, Y., Pan, G., Du, L., Li, L., Yang, Y., Qiu, L., Gao, Q., Dan, H., Mao, L., Cheng, Z., Fan, C., Yu, J., Lin, M., Kristiansen, K., Shen, Y., & Wei, X. (2018). Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study. Scientific Reports, 8, 1-9. [11646]. https://doi.org/10.1038/s41598-018-30151-z

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title = "Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study",

author = "Yan Sun and Jianfen Man and Yang Wan and Gao Pan and Lique Du and Long Li and Yun Yang and Liru Qiu and Qing Gao and Handong Dan and Liangwei Mao and Zhengyu Cheng and Chen Fan and Jing Yu and Mufei Lin and Karsten Kristiansen and Yin Shen and Xiaoming Wei",

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doi = "10.1038/s41598-018-30151-z",

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TY - JOUR

T1 - Targeted next-generation sequencing as a comprehensive test for Mendelian diseases

T2 - a cohort diagnostic study

AU - Sun, Yan

AU - Man, Jianfen

AU - Wan, Yang

AU - Pan, Gao

AU - Du, Lique

AU - Li, Long

AU - Yang, Yun

AU - Qiu, Liru

AU - Gao, Qing

AU - Dan, Handong

AU - Mao, Liangwei

AU - Cheng, Zhengyu

AU - Fan, Chen

AU - Yu, Jing

AU - Lin, Mufei

AU - Kristiansen, Karsten

AU - Shen, Yin

AU - Wei, Xiaoming

PY - 2018/12/1

Y1 - 2018/12/1

U2 - 10.1038/s41598-018-30151-z

DO - 10.1038/s41598-018-30151-z

M3 - Journal article

C2 - 30076350

SN - 2045-2322

VL - 8

SP - 1

EP - 9

JO - Scientific Reports

JF - Scientific Reports

M1 - 11646

ER -

Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study

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