Experience in developing the human genome standard E701

The first Russian human genome standard E701 was developed through a collaborative research involving four laboratories: Pirogov Russian National Research Medical University, National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov, National Research Center Kurchatov Institute, and National Medical Research Radiological Centre. Whole-genome sequencing of short reads on various platforms (MGI Tech, Illumina) and alignment to the reference human genome GRCh38.p14 were performed for the E701 sample. Subsequently, 3842 877 genomic variants were identified, which can be used as a standard for calculating statistical quality metrics while analyzing sequencing data. This variant set was additionally filtered by the GIAB high-confidence regions version 4.2.1, yielding 3262 154 variants. Moreover, E701 sample has undergone multiple whole-exome sequencing using five different enrichment panels for exome-genome concordance analysis. Furthermore, 9096 bi-allelic variants were identified on the autosomes and the X chromosome, with a minor allele frequency exceeding 0.4. Additionally, mitochondrial DNA sequencing was performed with the breadth of coverage over 99.9% at 1000×.

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Publication Details

Journal
NAR Genomics and Bioinformatics
Published
2025-03-29
DOI
https://doi.org/10.1093/nargab/lqaf057
Primary Topic
Forensic and Genetic Research
Type
article
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article

Experience in developing the human genome standard E701

Peter Alekseevich Shatalov, Anna Kuznetsovа, Dmitriy Korostin, Iuliia Vasiliadis et al.
NAR Genomics and Bioinformatics
Forensic and Genetic Research
article

Experience in developing the human genome standard E701

Peter Alekseevich Shatalov, Anna Kuznetsovа, Dmitriy Korostin, Iuliia Vasiliadis, T. V. Kulyabina, E. V. Kulyabina, О. N. Melkova, Denis Rebrikov, Oleg N. Suchalko, Anna Shmitko, Vera Belova, Andrey Goltsov, Alina Samitova, Peter Shegai
article en

Abstract

The first Russian human genome standard E701 was developed through a collaborative research involving four laboratories: Pirogov Russian National Research Medical University, National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov, National Research Center Kurchatov Institute, and National Medical Research Radiological Centre. Whole-genome sequencing of short reads on various platforms (MGI Tech, Illumina) and alignment to the reference human genome GRCh38.p14 were performed for the E701 sample. Subsequently, 3842 877 genomic variants were identified, which can be used as a standard for calculating statistical quality metrics while analyzing sequencing data. This variant set was additionally filtered by the GIAB high-confidence regions version 4.2.1, yielding 3262 154 variants. Moreover, E701 sample has undergone multiple whole-exome sequencing using five different enrichment panels for exome-genome concordance analysis. Furthermore, 9096 bi-allelic variants were identified on the autosomes and the X chromosome, with a minor allele frequency exceeding 0.4. Additionally, mitochondrial DNA sequencing was performed with the breadth of coverage over 99.9% at 1000×.

NAR Genomics and BioinformaticsVol. 7(2)
Pirogov Russian National Research Medical University (RU), Ministry of Health of the Russian Federation (RU), Medical Radiological Research Center (RU), National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov of the Ministry of Healthcare of the Russian Federation (RU), All-Russian research Institute of metrological service (RU), Genetic Technologies (Australia) (AU)
Partnerships for the goals
Openalex Percentile: Top 88%
Forensic and Genetic Research
DOIOpen Access PDFOpenAlex
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