scholarly journals Brief Report: Whole-Exome Sequencing for Identification of Potential Causal Variants for Diffuse Cutaneous Systemic Sclerosis

2016 ◽  
Vol 68 (9) ◽  
pp. 2257-2262 ◽  
Author(s):  
Angel C. Y. Mak ◽  
Paul L. F. Tang ◽  
Clare Cleveland ◽  
Melanie H. Smith ◽  
M. Kari Connolly ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Causal Variants ◽  
Diffuse Cutaneous Systemic Sclerosis

scholarly journals Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study

2016 ◽  
Vol 17 (1) ◽  
Author(s):  
Christopher J. Cardinale ◽  
Dong Li ◽  
Lifeng Tian ◽  
John J. Connolly ◽  
Michael E. March ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Family Based

scholarly journals Identification of Rare Variants inATP8B4as a Risk Factor for Systemic Sclerosis by Whole-Exome Sequencing

2015 ◽  
Vol 68 (1) ◽  
pp. 191-200 ◽  
Author(s):  
Li Gao ◽  
Mary J. Emond ◽  
Tin Louie ◽  
Chris Cheadle ◽  
Alan E. Berger ◽  
...  
Keyword(s):  
Risk Factor ◽  
Systemic Sclerosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Rare Variants ◽  
Whole Exome

scholarly journals Identification of potential causal variants for premature ovarian failure by whole exome sequencing

2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Haengun Jin ◽  
JuWon Ahn ◽  
YoungJoon Park ◽  
JeongMin Sim ◽  
Han Sung Park ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Premature Ovarian Failure ◽  
Ovarian Failure ◽  
Reproductive Age ◽  
Bioinformatics Analyses ◽  
Korean Patients ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Causal Variants

Abstract Background Premature ovarian failure (POF) is a highly heterogeneous disorder that occurs in 1% of women of reproductive age. Very few causative genes and variants contributing to POF have been detected, and the disease remains incompletely understood. In this study, we used whole exome sequencing (WES) to identify potential causal variants leading to POF. Methods WES was conducted to identify variants in 34 Korean patients with POF, alongside 10 normal controls. Detected variants were filtered using a range of characterized bioinformatics analyses, and the machine learning tools, CADD and VEST, were used to predict pathogenic variants that could cause disease. VarSome was used for a comprehensive interpretation of the variants. Potential causal variants finally screened by these analyses were confirmed using Sanger sequencing. Results We identified nine potential causative variants in genes previously associated with POF in 8 of 34 (24%) Korean patients by WES variant analysis. These potentially pathogenic variants included mutations in the MCM8, MCM9, and HFM1 genes, which are involved in homologous recombination, DNA repair, and meiosis, and are established as causing POF. Using a combination of CADD and VEST, 72 coding variants were also identified in 72 genes, including ADAMTSL1 and FER1L6, which have plausible functional links to POF. Conclusions WES is a useful tool to detect genetic variants that cause POF. Accumulation and systematic management of data from a number of WES studies in specialized groups of patients with POF (family data, severe case populations) are needed to better comprehend the genetic landscape underlying POF.

scholarly journals Identification of potential genetic causal variants for rheumatoid arthritis by whole-exome sequencing

Oncotarget ◽  
2017 ◽  
Vol 8 (67) ◽  
pp. 111119-111129 ◽  
Author(s):  
Ying Li ◽  
Elaine Lai-Han Leung ◽  
Hudan Pan ◽  
Xiaojun Yao ◽  
Qingchun Huang ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Causal Variants

Whole Exome Sequencing (WES) in Familien mit linksventrikulärer Ausfluβtraktobstruktion (LVOTO)

2014 ◽  
Vol 62 (S 02) ◽  
Author(s):  
M. Hitz ◽  
S. Al-Turki ◽  
A. Schalinski ◽  
U. Bauer ◽  
T. Pickardt ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome

FV 1031. Whole Exome Sequencing for Children with Dyskinetic Movement Disorder

2018 ◽  
Author(s):  
Yasemin Dincer ◽  
Michael Zech ◽  
Matias Wagner ◽  
Nikolai Jung ◽  
Volker Mall ◽  
...  
Keyword(s):  
Movement Disorder ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Dyskinetic Movement
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