scholarly journals A single‐center pilot study in Malaysia on the clinical utility of whole‐exome sequencing for inborn errors of immunity

2021 ◽  
Author(s):  
Adiratna Mat Ripen ◽  
Chai Teng Chear ◽  
Mohd Farid Baharin ◽  
Revathy Nallusamy ◽  
Kwai Cheng Chan ◽  
...  
Keyword(s):  
Pilot Study ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Clinical Utility ◽  
Single Center ◽  
Inborn Errors ◽  
Inborn Errors Of Immunity ◽  
Whole Exome

Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity

2020 ◽  
Vol 40 (5) ◽  
pp. 729-740 ◽  
Author(s):  
Tsubasa Okano ◽  
Kohsuke Imai ◽  
Takuya Naruto ◽  
Satoshi Okada ◽  
Motoi Yamashita ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Germline Mutations ◽  
Inborn Errors ◽  
Inborn Errors Of Immunity ◽  
Whole Exome

scholarly journals Whole-exome sequencing for detecting inborn errors of immunity: overview and perspectives

F1000Research ◽  
2017 ◽  
Vol 6 ◽  
pp. 2056
Author(s):  
Barbara Bosch ◽  
Yuval Itan ◽  
Isabelle Meyts
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Molecular Mechanisms ◽  
Future Research ◽  
Sequencing Analysis ◽  
Genetic Etiology ◽  
Inborn Errors ◽  
Inborn Errors Of Immunity ◽  
Whole Exome ◽  
Clinical Description

The study of inborn errors of immunity is based on a comprehensive clinical description of the patient’s phenotype and the elucidation of the underlying molecular mechanisms and their genetic etiology. Deciphering the pathogenesis is key to genetic counseling and the development of targeted therapy. This review shows the power of whole-exome sequencing in detecting inborn errors of immunity along five central steps taken in whole-exome sequencing analysis. In parallel, we highlight the challenges for the clinical and scientific use of the method and how these hurdles are currently being addressed. We end by ruminating on major areas in the field open to future research.

scholarly journals Whole exome sequencing in inborn errors of immunity

2017 ◽  
Vol 17 (6) ◽  
pp. 421-430 ◽  
Author(s):  
Giorgia Bucciol ◽  
Erika Van Nieuwenhove ◽  
Leen Moens ◽  
Yuval Itan ◽  
Isabelle Meyts
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Inborn Errors ◽  
Inborn Errors Of Immunity ◽  
Whole Exome

scholarly journals Investigation of Pathogenic Genes in Peri-Implantitis from Implant Clustering Failure Patients: A Whole-Exome Sequencing Pilot Study

PLoS ONE ◽  
2014 ◽  
Vol 9 (6) ◽  
pp. e99360 ◽  
Author(s):  
Soohyung Lee ◽  
Ji-Young Kim ◽  
Jihye Hwang ◽  
Sanguk Kim ◽  
Jae-Hoon Lee ◽  
...  
Keyword(s):  
Pilot Study ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Pathogenic Genes ◽  
Whole Exome

scholarly journals Whole-exome sequencing analysis on products of conception: A cohort study to evaluate clinical utility and genetic etiology for pregnancy loss

2020 ◽  
Author(s):  
Chen Zhao ◽  
Hongyan Chai ◽  
Qinghua Zhou ◽  
Jiadi Wen ◽  
Uma M. Reddy ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Clinical Utility ◽  
Pregnancy Loss ◽  
Renal Diseases ◽  
Sequencing Analysis ◽  
Genetic Etiology ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Products Of Conception

Purpose: Pregnancy loss ranging from spontaneous abortion (SAB) to stillbirth can result from monogenic causes of Mendelian inheritance. This study evaluated the clinical application of whole exome sequencing (WES) in identifying the genetic etiology for pregnancy loss. Methods: A cohort of 102 specimens from products of conception (POC) with normal karyotype and absence of pathogenic copy number variants were selected for WES. Abnormality detection rate (ADR) and variants of diagnostic value correlated with SAB and stillbirth were evaluated. Results: WES detected six pathogenic variants, 16 likely pathogenic variants, and 17 variants of uncertain significance favor pathogenic (VUSfp) from this cohort. The ADR for pathogenic and likely pathogenic variants was 22% and reached 35% with the inclusion of VUSfp. The ADRs of SAB and stillbirth were 36% and 33%, respectively. Affected genes included those associated with multi-system abnormalities, neurodevelopmental disorders, cardiac anomalies, skeletal dysplasia, metabolic disorders and renal diseases. Conclusion: These results supported the clinical utility of WES for detecting monogenic etiology of pregnancy loss. The identification of disease associated variants provided information for follow-up genetic counseling of recurrence risk and management of subsequent pregnancies. Discovery of novel variants could provide insight for underlying molecular mechanisms causing fetal death.

scholarly journals Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

2018 ◽  
Vol 20 (11) ◽  
pp. 1328-1333 ◽  
Author(s):  
Ahmed Alfares ◽  
Taghrid Aloraini ◽  
Lamia Al subaie ◽  
Abdulelah Alissa ◽  
Ahmed Al Qudsi ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genome Sequencing ◽  
Clinical Utility ◽  
Whole Genome ◽  
Whole Exome

scholarly journals Novel Discoveries in Immune Dysregulation in Inborn Errors of Immunity

2021 ◽  
Vol 12 ◽  
Author(s):  
Anwen Ren ◽  
Wei Yin ◽  
Heather Miller ◽  
Lisa S. Westerberg ◽  
Fabio Candotti ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Exome Sequencing ◽  
Genome Sequencing ◽  
Immune Dysregulation ◽  
Genetic Mutation ◽  
Disease Monitoring ◽  
Whole Genome ◽  
Inborn Errors ◽  
Inborn Errors Of Immunity ◽  
Whole Exome

With the expansion of our knowledge on inborn errors of immunity (IEI), it gradually becomes clear that immune dysregulation plays an important part. In some cases, autoimmunity, hyperinflammation and lymphoproliferation are far more serious than infections. Thus, immune dysregulation has become significant in disease monitoring and treatment. In recent years, the wide application of whole-exome sequencing/whole-genome sequencing has tremendously promoted the discovery and further studies of new IEI. The number of discovered IEI is growing rapidly, followed by numerous studies of their pathogenesis and therapy. In this review, we focus on novel discovered primary immune dysregulation diseases, including deficiency of SLC7A7, CD122, DEF6, FERMT1, TGFB1, RIPK1, CD137, TET2 and SOCS1. We discuss their genetic mutation, symptoms and current therapeutic methods, and point out the gaps in this field.

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