Biology Faculty Articles
Document Type
Article
Publication Date
7-11-2018
Publication Title
PLoS One
Keywords
Genome sequencing, Variant genotypes, Genotyping, Genomics, Genomic medicine, DNA libraries, Genomic libraries, Sequence assembly tools
ISSN
1932-6203
Volume
13
Issue/No.
7
First Page
e0200423
Abstract
A comparative analysis of whole genome sequencing (WGS) and genotype calling was initiated for ten human genome samples sequenced by St. Petersburg State University Peterhof Sequencing Center and by three commercial sequencing centers outside of Russia. The sequence quality, efficiency of DNA variant and genotype calling were compared with each other and with DNA microarrays for each of ten study subjects. We assessed calling of SNPs, indels, copy number variation, and the speed of WGS throughput promised. Twenty separate QC analyses showed high similarities among the sequence quality and called genotypes. The ten genomes tested by the centers included eight American patients afflicted with autoimmune hepatitis (AIH), plus one case’s unaffected parents, in a prelude to discovering genetic influences in this rare disease of unknown etiology. The detailed internal replication and parallel analyses allowed the observation of two of eight AIH cases carrying a rare allele genotype for a previously described AIH-associated gene (FTCD), plus multiple occurrences of known HLA-DRB1 alleles associated with AIH (HLA-DRB1-03:01:01, 13:01:01 and 7:01:01). We also list putative SNVs in other genes as suggestive in AIH influence.
Additional Comments
St. Petersburg State University Genome Russia Grant #: 1.52.1647.2016
NSUWorks Citation
Zhernakova, Daria V.; Sergei Kliver; Nikolay Cherkasov; Gaik Tamazian; Mikhail Rotkevich; Ksenia Krasheninnikova; Igor Evsyukov; Sviatoslav Sidorov; Pavel Dobrynin; Andrey A. Yurchenko; Valentin Shimansky; Irina V. Shcherbakova; Andrey S. Glotov; David L. Valle; Minzhong Tang; Emilia Shin; Kathleen B. Schwarz; and Stephen James O'Brien. 2018. "Analytical “Bake-Off” of Whole Genome Sequencing Quality for the Genome Russia Project Using a Small Cohort for Autoimmune Hepatitis." PLoS One 13, (7): e0200423. doi:10.1371/journal.pone.0200423.
ORCID ID
0000-0001-7353-8301
ResearcherID
N-1726-2015
DOI
10.1371/journal.pone.0200423
Comments
©2018 Zhernakova et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.