Yuen Ming Tan
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View article: Rapid exome sequencing to aid diagnostics in genetic disorders: Implementation and challenges in the Singapore context
Rapid exome sequencing to aid diagnostics in genetic disorders: Implementation and challenges in the Singapore context Open
There is a high burden of genetic disorders in patients admitted to the intensive care unit (ICU), ranging from 45-56%, 1,2 and delayed definitive diagnoses with a long diagnostic odyssey often contribute to increased healthcare costs. 3Th…
View article: Rapid Exome Sequencing for Critically Ill Children: Implementation and Challenges in the Asian Context
Rapid Exome Sequencing for Critically Ill Children: Implementation and Challenges in the Asian Context Open
Objective: Use rapid next-generation sequencing (NGS) to improve our diagnostic yield in critically ill paediatric patients with suspected genetic disorders in the Asian setting. Design: A diagnostic study conducted between April 2018 and …
View article: AB086. HLA-B*1502 and HLA-B*5801 genotyping for the prevention of severe cutaneous adverse drug reactions in a Children’s Hospital
AB086. HLA-B*1502 and HLA-B*5801 genotyping for the prevention of severe cutaneous adverse drug reactions in a Children’s Hospital Open
Background: Severe cutaneous adverse drug reactions (SCARs) are life-threatening. This includes Stevens-Johnson syndrome (SJS) and the more severe phenotype, toxic epidermal necrolysis (TEN). Clinical studies have shown that HLA-B*1502 all…
View article: AB091. Comparison of two haemoglobin electrophoresis platforms for the detection of haemoglobinopathies
AB091. Comparison of two haemoglobin electrophoresis platforms for the detection of haemoglobinopathies Open
Background: Haemoglobin (Hb) electrophoresis is used as a screening tool to identify thalassemias and haemoglobinopathies. It allows for the quantification of HbA, HbA2, HbF and other Hb variants. An accurate diagnosis and identification o…