Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform

Yan Sun; Jing Yuan; Limin Wu; Min Li; Xiaoli Cui; Chengbin Yan; Lique Du; Liangwei Mao; Jianfen Man; Wei Li; Karsten Kristiansen; Xuan Wu; Weijun Pan; Yun Yang; Yun Yang

doi:10.1097/MD.0000000000014860

Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform

Yan Sun, Jing Yuan, Limin Wu, Min Li, Xiaoli Cui, Chengbin Yan, Lique Du, Liangwei Mao, Jianfen Man, Wei Li, Karsten Kristiansen, Xuan Wu, Weijun Pan, Yun Yang, Yun Yang

Genomforskning og Molekylær Biomedicin

4 Citationer (Scopus)

27 Downloads (Pure)

Originalsprog	Engelsk
Artikelnummer	e14860
Tidsskrift	Medicine
Vol/bind	98
Udgave nummer	12
Sider (fra-til)	1-7
ISSN	0025-7974
DOI	https://doi.org/10.1097/MD.0000000000014860
Status	Udgivet - 2019

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10.1097/MD.0000000000014860Licens: CC BY-NC

Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platformForlagets udgivne version, 293 KBLicens: CC BY-NC

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@article{4445904733fa4df1a81b3355f0c28f7b,

title = "Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform",

keywords = "BGISEQ-500, hearing loss, mutation detection, targeted NGS",

author = "Yan Sun and Jing Yuan and Limin Wu and Min Li and Xiaoli Cui and Chengbin Yan and Lique Du and Liangwei Mao and Jianfen Man and Wei Li and Karsten Kristiansen and Xuan Wu and Weijun Pan and Yun Yang and Yun Yang",

year = "2019",

doi = "10.1097/MD.0000000000014860",

language = "English",

volume = "98",

pages = "1--7",

journal = "Medicine",

issn = "0025-7974",

publisher = "Wolters Kluwer Health, Inc.",

number = "12",

}

TY - JOUR

T1 - Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform

AU - Sun, Yan

AU - Yuan, Jing

AU - Wu, Limin

AU - Li, Min

AU - Cui, Xiaoli

AU - Yan, Chengbin

AU - Du, Lique

AU - Mao, Liangwei

AU - Man, Jianfen

AU - Li, Wei

AU - Kristiansen, Karsten

AU - Wu, Xuan

AU - Pan, Weijun

AU - Yang, Yun

PY - 2019

Y1 - 2019

KW - BGISEQ-500

KW - hearing loss

KW - mutation detection

KW - targeted NGS

U2 - 10.1097/MD.0000000000014860

DO - 10.1097/MD.0000000000014860

M3 - Journal article

C2 - 30896630

SN - 0025-7974

VL - 98

SP - 1

EP - 7

JO - Medicine

JF - Medicine

IS - 12

M1 - e14860

ER -

Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform

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