a systematic analysis of mtDNA comprehensive characterization from 7,324 samples, comprising 4,122 Chinese samples (NyuWa) and 3,202 samples from the 1000 Genomes Project (1KGP) using high-depth whole genome sequencing data.
NyuWa mtDNA Variants Resource (NMVR), a systematic analysis of mtDNA comprehensive characterization from 7,324 samples, comprising 4,122 Chinese samples (NyuWa) and 3,202 samples from the 1000 Genomes Project (1KGP).
Mitochondria play important roles in biological processes. mtDNA variants and NUMTs are reported to be associated with a variety of complex diseases. In recent years, whole genome sequencing (WGS) has been used to identify genetic variants, but more attention has been focused on the identification of nuclear genome (nDNA) variants. Although there have been some researches on mtDNA variants and NUMTs based on deep WGS data, but few studies involving East Asian populations, especially Chinese populations. Considering that certain degree of population heterogeneity was demonstrated, it is necessary to study mtDNA variants and NUMTs based on deep WGS data in large-scale Chinese population. In this study, we conducted a systematic analysis of mitochondrial DNA comprehensive characterization from 7,324 samples focusing on the Chinese population, which were also utilized to profile the landscape of the Han Chinese NUMTs.
| Resource | Description | Article |
|---|---|---|
| NCVD | NyuWa Genome resource: A deep whole-genome sequencing-based variation profile and reference panel for the Chinese population | DOI: 10.1016/j.celrep.2021.110017 |
| HMEID | HMEID is a database for providing comprehensive resources of human mobile element insertions (MEIs). MEIs collected in HMEID were detected by processing Whole Genome Sequencing (WGS) data from 1KGP and Nyuwa datasets. | Doi: 10.1093/nar/gkac128 |
| Center for Big Data Research in Health, |
| Key Laboratory of Epigenetic Regulation and Intervention, |
| Institute of Biophysics, Chinese Academy of Sciences, |
| Beijing, P.R.China, 100101 |
Users can browse NMVR by mtDNA feature types. The select options include Mt_tRNA, Mt_rRNA, protein_coding, and "-" for non-gene (D-loop region and intergenic regions).
Users can click on the Variant Id to go to the details page of mtDNA variants in NMVR. Some mtDNA variants are annotated to RS in dbSNP, and NMVR provides links to these variants for further information.
Users can search NMVR by entering the keywords like mtDNA variant, gene symbol, and mtDNA region.
The keyword format:
The search results page is divided into two parts. The upper part is the search box, the user can re-enter keywords to search. The lower part shows the results of the search. Users can enter multiple different keywords at the same time。
Users can click on the Variant Id to go to the details page of mtDNA variants in NMVR. Some mtDNA variants are annotated to RS in dbSNP, and NMVR provides links to these variants for further information.
The mtDNA variant Id is given in the title. The information of the mtDNA variants in NMVR is displayed in the General Information panel. The Allele frequencies panel shows the information in other databases.
Show the statistical results from NMVR.
