Самитова Алина Фаритовна

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.

The paper develops a human genome standard E701 through whole-genome sequencing, identifying genomic variants and mitochondrial DNA coverage for quality metrics.

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.

The paper identifies genetic variants in ANSD patients and shows differences in auditory tests between ANSD and SNHL groups, suggesting ASSR testing for better diagnosis.