Publications by authors named "Sommon Klumsathian"

Next-generation sequencing (NGS) has transformed pharmacogenomics (PGx), enabling thorough profiling of pharmacogenes using computational methods and advancing personalized medicine. The Thai Pharmacogenomic Database-2 (TPGxD-2) analyzed 948 whole genome sequences, primarily from the Electricity Generating Authority of Thailand (EGAT) cohort. This study is an extension of the previous Thai Pharmacogenomic Database (TPGxD-1) and specifically focused on 26 non-very important pharmacogenes (VIPGx) genes.

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Computational methods analyze genomic data to identify genetic variants linked to drug responses, thereby guiding personalized medicine. This study analyzed 942 whole-genome sequences from the Electricity Generating Authority of Thailand (EGAT) cohort to establish a population-specific pharmacogenomic database (TPGxD-1) in the Thai population. Sentieon (version 201808.

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Article Synopsis
  • * A Southeast Asian female patient exhibited global developmental delays and epileptic spasms linked to a newly identified NEUROD2 variant, showing initial improvement with combined vigabatrin and high-dose prednisolone but experiencing multiple relapses post-treatment.
  • * The study supports the use of combination therapy (vigabatrin and prednisolone) for treating epileptic spasms associated with NEUROD2 variants, suggesting potential benefits for patients with this genetic condition.
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Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are the most common referrals in the Inherited Cardiovascular Condition (ICC) Genetics Service. Several issues must be discussed with patients and their families during the genetic consultation session, including the options for genetic testing and cardiovascular surveillance in family members. We developed an ICC registry and performed next-generation-based DNA sequencing for all patients affected by non-syndromic HCM and idiopathic DCM in our joint specialist genetics service.

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Article Synopsis
  • Pharmacogenomics can improve drug treatment outcomes by using genetic testing to enhance drug effectiveness and reduce severe side effects.
  • Next-generation sequencing (NGS) allows for simultaneous genotyping of multiple pharmacogenomic loci, leading to greater data availability.
  • A study resequenced 100 pharmacogenes in Southeast Asian populations, revealing significant genetic variations that could explain differences in drug responses among populations.
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