Clinical benefit of Whole Genome Sequencing: report on 226 families

被引：0

作者：

Bertoli-Avella, A. M. ^{[1
]}

Yuksel, Z. ^{[1
]}

Brandau, O. ^{[1
]}

Balazs, J. ^{[1
]}

Garcia-Aznar, J. ^{[1
]}

Baldi, C. ^{[1
]}

Marais, A. ^{[1
]}

Paknia, O. ^{[1
]}

Weber, M. ^{[1
]}

Weiss, M. E. R. ^{[1
]}

Yavuz, H. ^{[1
]}

Franzenburg, S. ^{[1
]}

Voigt, C. ^{[1
]}

Kandaswamy, K. Kumar ^{[1
]}

Trujillano, D. ^{[1
]}

Al Shamisi, A. Saeed ^{[2
]}

Alfadhel, M. ^{[3
]}

Albalwi, M. A. ^{[4
]}

Al-Sannaa, N. Abbas ^{[5
]}

Kishore, S. ^{[1
]}

Bauer, P. ^{[1
,6
]}

Rolfs, A. ^{[1
,7
]}

机构：

[1] CENTOGENE GA, Rostock, Germany

[2] Tawam Hosp, Dept Pediat, Al Ain, U Arab Emirates

[3] King Saud bin Abdulaziz Univ Hlth Sci, Dept Pediat, King Abdullah Specialized Childrens Hosp, Div Genet,King Abdulaziz Med City, Riyadh, Saudi Arabia

[4] King Abdul Aziz Med City, Pathol & Lab Med, Riyadh, Saudi Arabia

[5] John Hopkins Aramco Hlth Care, Pediat Serv, Dhahran, Saudi Arabia

[6] Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany

[7] Albrecht Kossel Inst, Rostock, Germany

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26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：

P14.102B

引用

页码：678 / 678

页数：1

共 50 条

[1] Whole genome sequencing in families with oligodontia
Mitscherling, Janna
Sczakiel, Henrike L.
Kiskemper-Nestorjuk, Olga
Winterhalter, Sibylle
Mundlos, Stefan
Bartzela, Theodosia
Mensah, Martin A.
[J]. ORAL DISEASES, 2024, 30 (06) : 3935 - 3950
[2] ROUTINE WHOLE GENOME SEQUENCING IN CHILDREN WITH SOLID TUMOURS IS FEASIBLE AND DELIVERS CLINICAL BENEFIT
Leiter, Sarah
Vedi, Aditi
Trotman, Jamie
Hodder, Angus
Roberts, Thomas
Tadross, John
Nicholson, James
Burns, Charlotte
Barnard, Gemma
Burke, Amos
Coleman, Nicholas
Allinson, Kieren
Watkins, James
Trayers, Claire
Armstrong, Ruth
Bartram, Jack
Murray, Matthew
Hook, Catherine
Tarpey, Patrick
Behjati, Sam
[J]. PEDIATRIC BLOOD & CANCER, 2023, 70
[3] Diagnostic Yield and Cost-Benefit When Utilizing Clinical Whole Genome Sequencing
Rajan, Vani
Terry, Sharon F.
Green, Jessica
Ortega, Julia
[J]. GENETIC TESTING AND MOLECULAR BIOMARKERS, 2022, 26 (05) : 253 - 254
[4] Whole genome sequencing in clinical practice
Bagger, Frederik Otzen
Borgwardt, Line
Jespersen, Andreas Sand
Hansen, Anna Reimer
Bertelsen, Birgitte
Kodama, Miyako
Nielsen, Finn Cilius
[J]. BMC MEDICAL GENOMICS, 2024, 17 (01)
[5] Clinical whole genome sequencing at scale
MacBeth, Alyssa
Bowers, Tera
Woolf, Betty
Harden, Maegan
Lennon, Niall
Gabriel, Stacey
[J]. CANCER RESEARCH, 2019, 79 (13)
[6] Clinical whole-genome sequencing
Orli G. Bahcall
[J]. Nature Reviews Genetics, 2015, 16 (7) : 377 - 377
[7] Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases
Hong-Yan Liu
Liyuan Zhou
Meng-Yue Zheng
Jia Huang
Shu Wan
Aiying Zhu
Mingjie Zhang
Anliang Dong
Ling Hou
Jia Li
Haiming Xu
Bingjian Lu
Weiguo Lu
Pengyuan Liu
Yan Lu
[J]. Scientific Reports, 9
[8] Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases
Liu, Hong-Yan
Thou, Liyuan
Zheng, Meng-Yue
Huang, Jia
Wan, Shu
Zhu, Aiying
Zhang, Mingjie
Dong, Anliang
Hou, Ling
Li, Jia
Xu, Haiming
Lu, Bingjian
Lu, Weiguo
Liu, Pengyuan
Lu, Yan
[J]. SCIENTIFIC REPORTS, 2019, 9 (1)
[9] WHOLE GENOME SEQUENCING OF SCHIZOPHRENIA FAMILIES WITH MULTIPLE AFFECTED INDIVIDUALS
Chen, Xiangning
Chen, Jingchun
Wu, Jain-Shin
Mize, Travis
[J]. EUROPEAN NEUROPSYCHOPHARMACOLOGY, 2019, 29 : S868 - S869
[10] The Challenge of Whole Genome Sequencing in a clinical setting
Davison, E. V.
Deans, Z. C.
Turnbull, C.
Henderson, S.
Baple, E.
Thomas, E.
Scott, R.
Hill, S. L.
[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 687 - 687

← 1 2 3 4 5 →