Taghrid Aloraini
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View article: Copy Number Variants in 30 Saudi Pediatric Patients with Neurodevelopmental Disorders: From Unknown Significance to Diagnosis
Copy Number Variants in 30 Saudi Pediatric Patients with Neurodevelopmental Disorders: From Unknown Significance to Diagnosis Open
Background: Structural variants (SVs), such as copy number variants (CNVs), insertions, deletions, inversions, and translocations, contribute significantly to genetic diversity and disease etiology. CNVs, which involve the duplication or d…
View article: 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 Open
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 asso…
View article: Prospect of genetic disorders in Saudi Arabia
Prospect of genetic disorders in Saudi Arabia Open
Introduction: Rare diseases (RDs) create a massive burden for governments and families because sufferers of these diseases are required to undergo long-term treatment or rehabilitation to maintain a normal life. In Saudi Arabia (SA), the p…
View article: Supplementary testing after negative or inconclusive exome sequencing results
Supplementary testing after negative or inconclusive exome sequencing results Open
Background: Accurate diagnosis benefits patients and their families by directing clinical management; predicting recurrence risks; providing prognosis; and preventing the invasive, time-consuming, and costly diagnostic odyssey. The present…
View article: Genetic impact of non-consanguineous marriages in Saudi Arabia.
Genetic impact of non-consanguineous marriages in Saudi Arabia. Open
Background: Physicians and geneticists face challenges in making accurate diagnoses during clinical evaluations; affecting patients and clinicians. The aim of this study was to estimate the hit rate of the non-consanguineous population. Mo…
View article: Genetic impact of non-consanguineous marriages in Saudi Arabia
Genetic impact of non-consanguineous marriages in Saudi Arabia Open
Aim: The aim of this study was to determine the prevalence of genetic disorders in the non-consanguineous population of Saudi Arabia.Methods: We assessed all the exome sequencing requests associated with pathogenic or likely pathogenic var…
View article: Common disease-associated gene variants in a Saudi Arabian population
Common disease-associated gene variants in a Saudi Arabian population Open
BACKGROUND: Screening programs for the most prevalent conditions occurring in a country is an evidence-based prevention strategy. The burden of autosomal recessive disease variations in Saudi Arabia is high because of the highly consanguin…
View article: DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning
DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning Open
Motivation Structural genomic variants account for much of human variability and are involved in several diseases. Structural variants are complex and may affect coding regions of multiple genes, or affect the functions of genomic regions …
View article: Genetic carrier screening for disorders included in newborn screening in the Saudi population
Genetic carrier screening for disorders included in newborn screening in the Saudi population Open
Background: Inborn errors of metabolism (IEM) are prevalent autosomal recessive disorders in Saudi Arabia. Socio-economic factors, such as consanguineous marriages, play a role in the high rate of diseases. The government of Saudi Arabia c…
View article: Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly Open
Background Coat protein complex 1 (COPI) is integral in the sorting and retrograde trafficking of proteins and lipids from the Golgi apparatus to the endoplasmic reticulum (ER). In recent years, coat proteins have been implicated in human …
View article: DeepSVP: Integration of genotype and phenotype for structural variant prioritization using deep learning
DeepSVP: Integration of genotype and phenotype for structural variant prioritization using deep learning Open
Motivation Structural genomic variants account for much of human variability and are involved in several diseases. Structural variants are complex and may affect coding regions of multiple genes, or affect the functions of genomic regions …
View article: Amended Informative Negative Whole Exome Sequencing Results
Amended Informative Negative Whole Exome Sequencing Results Open
Background: Whole exome sequencing (WES) is widely used as a first-tier diagnostic test. The diagnostic yield for WES is estimated at approximately 50%, leaving the requesting clinician with 50% ambiguous or negative results in cases where…
View article: <scp><i>EMC10</i></scp> homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay
<span><i>EMC10</i></span> homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay Open
In recent years, several genes have been implicated in the variable disease presentation of global developmental delay (GDD) and intellectual disability (ID). The endoplasmic reticulum membrane protein complex (EMC) family is known to be i…
View article: What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations Open
Background Testing strategies is crucial for genetics clinics and testing laboratories. In this study, we tried to compare the hit rate between solo and trio and trio plus testing and between trio and sibship testing. Finally, we studied t…
View article: Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report
Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report Open
Background: Congenital myopathies are a diverse group of diseases that share features from the early onset of symptoms in the first year of life, such as hypotonia, muscle weakness, and developmental delays, and are often associated with r…
View article: Additional file 3 of What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations
Additional file 3 of What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations Open
Additional file 3.
View article: Additional file 3 of What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations
Additional file 3 of What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations Open
Additional file 3.
View article: Attitudes of geneticists and patients toward incidental findings in Saudi Arabia
Attitudes of geneticists and patients toward incidental findings in Saudi Arabia Open
Background: In Middle East countries, including Saudi Arabia, 60%70% of all marriages occur between first cousins, leading to uniquely common genetic disorders compared to Western countries. The primary objective of this study is to inves…