Zhanna A. Repinskaia

This study evaluates pharmacogenomic data in Russian children and newborns, highlighting the need for age-adjusted interpretation and developing a pediatric pharmacogenomics reporting model.

The paper identifies monogenic variants in the Russian population associated with adverse drug reactions, highlighting their potential to improve personalized pharmacotherapy.

This paper evaluates primary template-directed amplification (PTA) for whole exome sequencing on small cell samples, showing improved coverage and reduced allelic dropout compared to conventional methods.

This study compares four exome enrichment kits, finding high coverage and variant calling accuracy, with Nanodigmbio showing highest precision and Vazyme and Nanodigmbio comparable to Agilent and Roche.