Denis V. Rebrikov

Classification of ACE variants related to Alzheimer's disease (AD): the ACE mutations -- AD browser

The paper creates a database of ACE variants linked to Alzheimer's disease, estimates their population frequency, and links them to reduced blood ACE levels.

PRECISE EXOME ANALYSIS OF BLASTOCYST BIOPSY SCALE SAMPLES USING PRIMARY TEMPLATE-DIRECTED AMPLIFICATION

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.

Experience in developing the human genome standard E701

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

Comparative evaluation of four exome enrichment solutions in 2024: Agilent, Roche, Vazyme and Nanodigmbio

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.

Heterogeneous group of genetically determined auditory neuropathy spectrum disorders

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.

CCQM-P199b: Interlaboratory comparability study of SARS-CoV-2 RNA copy number quantification

This study evaluates the comparability of SARS-CoV-2 RNA quantification methods across laboratories using RT-dPCR and highlights factors affecting interlaboratory variation.

Candidate genes for IgA nephropathy in pediatric patients: exome-wide association study

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

Performance Comparison Of Agilent New SureSelect All Exon v8 Probes With v7 Probes For Exome Sequencing

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.

Residual DNA in enzymes may pose a challenge for DIY RNA sequencing protocols: how to deal

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

SYSTEM ANALYSIS OF THE SEQUENCING QUALITY OF HUMAN WHOLE EXOME SAMPLES ON BGI NGS PLATFORM

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.

Runcer-Necromancer: A Method To Rescue Data From An Interrupted Run On MGISEQ-2000

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

THE SEARCH FOR AN ASSOCIATION OF HLA ALLELES AND COVID-19 RELATED MORTALITY IN THE RUSSIAN POPULATION

The paper investigates the association between HLA alleles and COVID-19 mortality in the Russian population using high-resolution sequencing and statistical analysis.