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×.