Related Experiment Video
Updated: Jun 27, 2026
07:15
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Carrier Frequencies of Medically Actionable Pathogenic Variants in the Russian Population
Yulia Suvorova1, Aleksandra Monakhova1, Nikolay Chekanov1
1Biotech Campus Limited Liability Company, 117437 Moscow, Russia.
International Journal of Molecular Sciences
|June 26, 2026
Summary
Genomic sequencing identified clinically actionable secondary findings in 2.76% of healthy Russians. Cancer and cardiovascular conditions were most common, highlighting the importance of genetic screening in diverse populations.
Area of Science:
- Genomics
- Medical Genetics
- Population Health
Background:
- Genomic sequencing in healthy individuals can uncover clinically actionable secondary findings.
- Limited data exists on the prevalence of these findings in the Russian population.
Purpose of the Study:
- To determine the spectrum and frequency of secondary findings in a large cohort of healthy Russian volunteers.
- To analyze variants in genes associated with treatable monogenic diseases.
Main Methods:
- Whole-genome sequencing of 42,826 healthy Russian volunteers.
- Analysis focused on pathogenic/likely pathogenic variants in 81 ACMG SF v3.2 genes.
- Variant data cross-referenced with ClinVar database.
Main Results:
- Secondary findings were detected in 1186 participants (2.76%).
- Cancer (1.32%) and cardiovascular (1.05%) phenotypes were the most frequent categories.
- High-frequency genes included BRCA1, BRCA2, RYR1, and LDLR.
Conclusions:
- This study provides the first large-scale assessment of secondary findings in the Russian population.
- The prevalence of secondary findings underscores the clinical utility of genomic sequencing in healthy individuals.
- Further investigation of potential loss-of-function variants could increase the overall detection rate.
Related Concept Videos
01:05Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
00:36Viral Mutations
A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material for adaptive...
01:24Transmission of Pathogens
Pathogens spread from their reservoirs to susceptible hosts through three main routes: contact transmission, vehicle transmission, and vector transmission. Each route involves distinct mechanisms of transfer.Contact TransmissionThis category includes direct contact, indirect contact, and droplet transmission:Direct contact involves immediate physical interaction between individuals—such as a handshake—which can spread pathogens like Streptococcus pyogenes, the bacterium responsible for...
01:25Rapid Identification of Pathogens
MALDI-TOF MS has transformed clinical microbiology by offering a rapid and reliable method for pathogen identification. The traditional approach to microbial identification typically involves time-consuming culture techniques and biochemical tests, which can delay the initiation of appropriate antimicrobial therapy. MALDI-TOF MS avoids these delays by using characteristic ribosomal protein mass patterns of microbial cells, enabling accurate species-level identification within minutes.Principle...
01:23Investigation of Disease Outbreaks
Multistate foodborne outbreaks pose significant public health risks and require meticulous investigation to identify sources and implement control measures. The Centers for Disease Control and Prevention (CDC) utilizes a dynamic seven-step process for these investigations, integrating data from laboratories, interviews, and environmental assessments to protect public health.Outbreak Detection: The detection of multistate outbreaks typically begins with PulseNet, the CDC's national laboratory...