… Nicholas S Caron, PhD, Galen EB Wright, PhD, and Michael R Hayden, MB, ChB, PhD,
FRCP(C), FRSC. … The loss of the CAA repeat has been termed the loss of interruption (LOI) …

Huntington disease (HD) is caused by a CAG repeat expansion in the huntingtin (HTT) gene.
Although the length of this repeat is inversely correlated with age of onset (AOO), it does …

We report an inborn error of metabolism caused by an expansion of a GCA-repeat tract in
the 5′ untranslated region of the gene encoding glutaminase (GLS) that was identified …

Polygenic scores (PGSs) have emerged as promising tools for complex trait risk prediction.
The application of these scores to pharmacogenomics provides new opportunities to improve …

Background Huntington's disease is a fatal neurodegenerative disorder that is caused by
CAG-CAA repeat expansion, encoding polyglutamine, in the huntingtin (HTT) gene. Current …

South Africa, like many other developing countries, stands to benefit from novel diagnostics
and drugs developed by pharmacogenomics guidance due to high prevalence of disease …

Huntington disease (HD) is the most common monogenic neurodegenerative disorder in
populations of European ancestry, but occurs at lower prevalence in populations of East Asian …

Vincristine is an effective chemotherapeutic drug for various cancers, including acute
lymphoblastic leukemia ( ALL ). Unfortunately, clinical utility is restricted by dose‐limiting vincristine…

Background Rapid advances in high throughput genomic technologies and next generation
sequencing are making medical genomic research more readily accessible and affordable, …

Genetic variation in CYP2B6 and CYP2A6 is known to impact interindividual response to
antiretrovirals, nicotine, and bupropion, among other drugs. However, the full catalogue of …