Next generation sequencing in sudden cardiac death (pilot study)

Maksimov, V. N.; Ivanoshchuk, D.; Орлов, П. С.; Иванова, А. А.; Malyutina, S.; Maksimova, S. V.; Родина, И. А.; Хамович, О. В.; Новоселов, В. П.; Воевода, М. И.

doi:10.15829/1560-4071-2020-3880

Cited by 4 publications

(3 citation statements)

References 27 publications

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“…Finally, a very recent study by Ramensky et al included 1,658 healthy controls; unfortunately, this study was based on a targeted sequencing of a small number of genes (242) (Ramensky et al, 2021). Despite the aforementioned limitations, data obtained in previous analyses have already been used for interpretation of clinical significance of variants (Glotov et al 2019; Maksimov et al 2020) and population genetics analyses (e.g., (Shikov et al 2020; Pinheiro, Sperb-Ludwig, and Schwartz 2021)). Exome-based allele frequencies have been included into several databases, including a database of BRCA1/BRCA2 gene mutations (https://oncobrca.ru/).…”

Section: Discussionmentioning

confidence: 99%

Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7,452 exome samples

Barbitoff

Khmelkova²,

Pomerantseva³

et al. 2021

Preprint

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The frequency of a genetic variant in a population is crucially important for accurate interpretation of known and novel variant effects in medical genetics. Recently, several large allele frequency databases, such as Genome Aggregation Database (gnomAD), have been created to serve as a global reference for such studies. However, frequencies of many rare alleles vary dramatically between populations, and population-specific allele frequency can be more informative than the global one. Many countries and regions (including Russia) remain poorly studied from the genetic perspective. Here, we report the first successful attempt to integrate genetic information between major medical genetic laboratories in Russia. We construct an expanded reference set of genetic variants by analyzing 6,096 exome samples collected in two major Russian cities of Moscow and St. Petersburg. An approximately tenfold increase in sample size compared to previous studies allowed us to identify genetically distinct clusters of individuals within an admixed population of Russia. We show that up to 18 known pathogenic variants are overrepresented in Russia compared to other European countries. We also identify several dozen high-impact variants that are present in healthy donors despite either being annotated as pathogenic in ClinVar or falling within genes associated with autosomal dominant disorders. The constructed database of genetic variant frequencies in Russia has been made available to the medical genetics community through a variant browser available at http://ruseq.ru.

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Section: Discussionmentioning

confidence: 99%

Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7,452 exome samples

Barbitoff

Khmelkova²,

Pomerantseva³

et al. 2021

Preprint

View full text Add to dashboard Cite

show abstract

“…у близких родственников пациента. Новые возможности для более детальной генетической диагностики у лиц, предрасположенных к развитию фатальных аритмий, несут высокопроизводительные технологии секвенирования [13,15,19,25]. Так, на сегодняшний день NGS технологии, в т.ч.…”

Section: результатыunclassified

“…Так, на сегодняшний день NGS технологии, в т.ч. полноэкзомное секвенирование, позволяют исследовать панель нарушений ритма сердца, включающую в себя 40 генов, а также их мутаций, связанных с развитием LQTS, синдрома Бругада, SQTS, CPVT [10,16,25,26].…”

Section: результатыunclassified

Role of genetic research in the prevention of life-threatening rhythm and cardiac conduction disorders in young people

et al. 2022

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According to epidemiological studies, in Russia there is a tendency towards an increase in sudden cardiac death (SCD), including among young workingage people. The leading mechanism for SCD in young patients, including those with undifferentiated connective tissue disease, is recognized as rhythm and conduction disorders. At the same time, the most tragic cases are the first and only manifestation of SCD in children and young people without structural heart disease. The article presents a brief analysis of the genetic causes of life-threatening rhythm and conduction disorders in young people, as well as a generalization of the modern possibilities of a personalized diagnostic approach from the standpoint of early cardiovascular prevention. Timely genetic diagnosis of SCD risk makes it possible to identify a predisposition to the development of a fatal event long before its occurrence, which contributes to the timely implementation of preventive measures within a high cardiovascular risk strategy and secondary prevention, maintaining working capacity, creative and social activity of young patients, and improving the quality of life.

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Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7452 exome samples

Barbitoff,

Khmelkova,

Pomerantseva

et al. 2024

National Science Review

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Population allele frequency is crucially important for accurate interpretation of known and novel variants in medical genetics. Recently, several large allele frequency databases, such as Genome Aggregation Database (gnomAD), have been created to serve as a global reference for such studies. However, frequencies of many rare alleles vary dramatically between populations, and population-specific allele frequency is often more informative than the global one. Many countries and regions, including Russia, remain poorly studied from the genetic perspective. Here, we report the first successful attempt to integrate genetic information between major medical genetic laboratories in Russia. We construct RUSeq, an open, large-scale reference set of genetic variants by analyzing 7 492 exome samples collected in two major Russian cities of Moscow and St. Petersburg. An approximately tenfold increase in sample size compared to previous studies allowed us to characterize extensive genetic diversity within the admixed Russian population with contributions from several major ancestral groups. We highlight 51 known pathogenic variants that are overrepresented in Russia compared to other European countries. We also identify several dozen high-impact variants that are present in healthy donors despite either being annotated as pathogenic in ClinVar and falling within genes associated with autosomal dominant disorders. The constructed database of genetic variant frequencies in Russia has been made available to the medical genetics community through a variant browser available at http://ruseq.ru.

show abstract

Next generation sequencing in sudden cardiac death (pilot study)

Cited by 4 publications

References 27 publications

Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7,452 exome samples

Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7,452 exome samples

Role of genetic research in the prevention of life-threatening rhythm and cardiac conduction disorders in young people

Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7452 exome samples

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