Reclassifying variations of unknown significance in diseases affecting Saudi Arabia’s population reveal new associations

Reclassifying variations of unknown significance in diseases affecting Saudi Arabia’s population reveal new associations

Introduction: Physicians face diagnostic dilemmas upon reports indicating disease variants of unknown significance (VUS). The most puzzling cases are patients with rare diseases, where finding another matched genotype and phenotype to associate their results is challenging. This study aims to prove...

Full description

Bibliographic Details
Main Authors:	Mariam M. Al Eissa, Raniah S. Alotibi, Bader Alhaddad, Taghrid Aloraini, Manar S. Samman, Abdulrahman AlAsiri, Mohamed Abouelhoda, Amerh S. AlQahtani
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2023-11-01
Series:	Frontiers in Genetics
Subjects:	single nucleotide variation variants of unknown significance exome sequencing next-generation sequencing novel variation disease-related
Online Access:	https://www.frontiersin.org/articles/10.3389/fgene.2023.1250317/full

Similar Items

Prospect of genetic disorders in Saudi Arabia
by: Amerh S. Alqahtani, et al.
Published: (2023-09-01)

Genetic carrier screening for disorders included in newborn screening in the Saudi population
by: Mariam Al Eissa, et al.
Published: (2021-12-01)

The diagnostic yield of CGH and WES in neurodevelopmental disorders
by: Raniah S. Alotibi, et al.
Published: (2023-03-01)

Supplementary testing after negative or inconclusive exome sequencing results
by: Balsam AlMaarik, et al.
Published: (2023-06-01)

Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing
by: Diderich KEM, et al.
Published: (2023-05-01)

Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing
by: Dayne L. Filer, et al.
Published: (2021-07-01)

A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data
by: Ramakrishnan Rajagopalan, et al.
Published: (2020-01-01)

The Use and Limitations of Exome Capture to Detect Novel Variation in the Hexaploid Wheat Genome
by: Amanda J. Burridge, et al.
Published: (2022-04-01)

Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)
by: Gordon K C Leung, et al.
Published: (2018-10-01)

<i>PCDH19</i> in Males: Are Hemizygous Variants Linked to Autism?
by: Eliane Chouery, et al.
Published: (2023-02-01)

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders
by: Marketa Wayhelova, et al.
Published: (2024-02-01)

Whole Exome Sequencing in Psoriasis Patients Contributes to Studies of Acitretin Treatment Difference
by: Xingchen Zhou, et al.
Published: (2017-01-01)

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing
by: Joep de Ligt, et al.
Published: (2014-12-01)

A new massively parallel nanoball sequencing platform for whole exome research
by: Yu Xu, et al.
Published: (2019-03-01)

Current genetic diagnostics in inborn errors of immunity
by: Sandra von Hardenberg, et al.
Published: (2024-04-01)

Identification of two novel PRPF31 mutations in Chinese families with non‐syndromic autosomal dominant retinitis pigmentosa
by: Li Cao, et al.
Published: (2020-12-01)

Anaconda: AN automated pipeline for somatic COpy Number variation Detection and Annotation from tumor exome sequencing data
by: Jianing Gao, et al.
Published: (2017-10-01)

DECA: scalable XHMM exome copy-number variant calling with ADAM and Apache Spark
by: Michael D. Linderman, et al.
Published: (2019-10-01)

Phenotyping Zebrafish Mutant Models to Assess Candidate Genes Associated with Aortic Aneurysm
by: Andrew Prendergast, et al.
Published: (2022-01-01)

Using Genomic Variation to Distinguish Ovarian High-Grade Serous Carcinoma from Benign Fallopian Tubes
by: Jesus Gonzalez-Bosquet, et al.
Published: (2022-11-01)

Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy
by: Tiejia Jiang, et al.
Published: (2021-08-01)

Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing
by: Abdul Ali Peer-Zada, et al.
Published: (2021-12-01)

Harel-Yoon syndrome: the first case report from Saudi Arabia
by: Alaa AlAyed, et al.
Published: (2020-06-01)

Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders
by: Tugce Bozkurt-Yozgatli, et al.
Published: (2024-04-01)

Challenging Occam’s Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures
by: Beatrice Spedicati, et al.
Published: (2022-11-01)

NOTCH2, ATIC, MRI1, SLC6A13, ATP13A2 Genetic Variations are Associated with Ventricular Septal Defect in the Chinese Tibetan Population Through Whole-Exome Sequencing
by: Zhang X, et al.
Published: (2023-04-01)

An evaluation of copy number variation detection tools for cancer using whole exome sequencing data
by: Fatima Zare, et al.
Published: (2017-05-01)

Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients
by: Guanghui Zhu, et al.
Published: (2019-09-01)

From genetic laboratory to the genetic clinic – Opportunities and challenges: An illustrated review
by: Ambika Gupta, et al.
Published: (2023-01-01)

Evaluation of Whole-Exome Enrichment Solutions: Lessons from the High-End of the Short-Read Sequencing Scale
by: Ana Díaz-de Usera, et al.
Published: (2020-11-01)

Exome and transcriptome sequencing identifies loss of PDLIM2 in metastatic colorectal cancers
by: Oh BY, et al.
Published: (2017-11-01)

Targeted next generation sequencing as a tool for precision medicine
by: Markus Gulilat, et al.
Published: (2019-06-01)

Effect of Next-Generation Exome Sequencing Depth for Discovery of Diagnostic Variants
by: Kyung Kim, et al.
Published: (2015-06-01)

Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders
by: Chao Gao, et al.
Published: (2019-05-01)

Editorial: Next Generation Sequencing (NGS) for Rare Diseases Diagnosis
by: Xiu-An Yang, et al.
Published: (2021-12-01)

Whole Exome Sequencing of Thymoma Patients Exhibiting Exceptional Responses to Pemetrexed Monotherapy
by: Tomohiro Tanaka, et al.
Published: (2023-08-01)

Genetic mutation of SLC6A20 (c.1072T > C) in a family with nephrolithiasis: A case report
by: Jv Menglei, et al.
Published: (2023-02-01)

Case report: Fetal cervical immature teratoma and copy number variations
by: Dianjie Li, et al.
Published: (2022-08-01)

SECNVs: A Simulator of Copy Number Variants and Whole-Exome Sequences From Reference Genomes
by: Yue Xing, et al.
Published: (2020-02-01)

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
by: Avinash V. Dharmadhikari, et al.
Published: (2019-05-01)