Vera Belova

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.

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.

This study benchmarks DNA isolation methods for marine metagenomics by evaluating eight kits across three sample types, focusing on quality, contamination, and community composition.

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.

The paper compares a new WES protocol, RSMU_exome, to an existing MGI Tech kit, showing it detects more variants with higher sensitivity and specificity while being cheaper and allowing more samples to be pooled.

BC-store analyzes and selects barcode sets for MGI Tech sequencing platforms to improve sample pooling efficiency and sequencing quality.

The paper describes a method to recover data from an interrupted sequencing run on the MGISEQ-2000 platform by merging partial data files.

This study compares the MGISEQ-2000 and Illumina HiSeq 2500 platforms for whole-genome sequencing, finding comparable error rates and performance in SNP detection.