A5073093693- Genomics and Rare Diseases
- Hemoglobinopathies and Related Disorders
- Genetic Associations and Epidemiology
- Iron Metabolism and Disorders
- Cancer Genomics and Diagnostics
- Forensic and Genetic Research
- Genetics and Neurodevelopmental Disorders
- Prenatal Screening and Diagnostics
- Metabolomics and Mass Spectrometry Studies
- RNA and protein synthesis mechanisms
- Neonatal Health and Biochemistry
Universiti Sains Malaysia
2015-2024
Hospital Universiti Sains Malaysia
2020
Sultan Zainal Abidin University
2016
Accurate and consistent interpretation of sequence variants is integral to the delivery safe reliable diagnostic genetic services. To standardize process, in 2015, American College Medical Genetics Genomics (ACMG) Association for Molecular Pathology (AMP) published a joint guideline based on set shared standards classification Mendelian diseases. The generality these their subjective between laboratories has prompted efforts reduce discordance variant classifications, with focus expert...
The Global Globin Network (GGN) is a project-wide initiative of the Human Variome/Global Variome Project (HVP) focusing on haemoglobinopathies to build capacity for genomic diagnosis, clinical services, and research in low- middle-income countries. At present, there no framework evaluate improvement care, treatment, prevention thalassaemia other globally, despite being one most common monogenic diseases worldwide. Here, we propose universally applicable system evaluating grouping countries...
The Malaysian Node of the Human Variome Project (MyHVP) is one eighteen official (HVP) country-specific nodes. Since its inception in 9th October 2010, MyHVP has attracted significant number clinicians and researchers to participate contribute their data this project. also act as center coordination for genotypic phenotypic variation studies population. A specialized database was developed store manage based on genetic variations which associated with health disease ethnic groups. This...
Haemoglobinopathies are the commonest monogenic diseases worldwide and caused by variants in globin gene clusters. With over 2400 detected to date, their interpretation using American College of Medical Genetics Genomics (ACMG)/Association for Molecular Pathology (AMP) guidelines is challenging computational evidence can provide valuable input about functional annotation. While many silico predictors have already been developed, performance varies different genes diseases. In this study, we...
Databases for gene variants are very useful sharing genetic data and to facilitate the understanding of basis diseases. This report summarises issues surrounding development Malaysian Human Variome Project Country Node. The focus is on human germline variants. Somatic variants, mitochondrial other types variation have corresponding databases which not covered here, as they specific that do necessarily apply variations.The ethical, legal, social issues, intellectual property, ownership data,...
Abstract Thalassemia is one of the most prevalent monogenic disorders in low- and middle-income countries (LMICs). There are an estimated 270 million carriers hemoglobinopathies (abnormal hemoglobins and/or thalassemia) worldwide, necessitating global methods solutions for effective optimal therapy. LMICs disproportionately impacted by thalassemia, due to disparities genomics awareness diagnostic resources, certain lag behind high-income (HICs). This spurred establishment Global Globin...
Background: Accurate and consistent interpretation of sequence variants is integral to the delivery safe reliable diagnostic genetic services. To standardize process, in 2015, American College Medical Genetics Genomics (ACMG) Association for Molecular Pathology (AMP) published a joint guideline based on different lines evidence classification Mendelian diseases. The generality this necessitates application expert judgment when evaluating weighing variant interpretation. Clinical Genome...
Abstract Introduction Haemoglobinopathies are the commonest monogenic diseases worldwide and caused by variants in globin gene clusters. With over 2400 detected to date, their interpretation using ACMG/AMP guidelines is challenging, with computational evidence able provide valuable input about functional annotation. While many silico predictors have already been developed, performance varies for different genes diseases. Materials Methods We evaluate 31 a dataset of 1627 HBA1, HBA2, HBB....