Anna O. Shmitko

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

The paper analyzes pharmacogenomic variants in 6,102 Russian exomes, identifying key drug metabolism and toxicity-related variants and highlighting limitations of WES for non-coding variant imputation.

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.

This study identifies genetic variants associated with IgA nephropathy in pediatric patients through an exome-wide association analysis.

The paper presents a protocol for designing custom barcodes for the MGI sequencing platform to increase sample capacity and barcode compatibility.

This study compares Agilent SureSelect All Exon v8 and v7 probes for exome sequencing, finding v8 improves SNV and indel detection with the same read count.

The paper identifies and addresses common pitfalls in DIY RNA-seq library preparation, offering guidance to improve workflow success.