KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses.

doi:10.1038/s41598-018-23837-x

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KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses.

Scientific reports - 4 Apr 2018

Kim Jungeun, Weber Jessica A, Jho Sungwoong, Jang Jinho, Jun JeHoon, Cho Yun Sung, Kim Hak-Min, Kim Hyunho, Kim Yumi, Chung OkSung, Kim Chang Geun, Lee HyeJin, Kim Byung Chul, Han Kyudong, Koh InSong, Chae Kyun Shik, Lee Semin, Edwards Jeremy S, Bhak Jong

Abstract excerpt

High-coverage whole-genome sequencing data of a single ethnicity can provide a useful catalogue of population-specific genetic variations, and provides a critical resource that can be used to more accurately identify pathogenic genetic variants. We report a comprehensive analysis of the Korean population, and present the Korean National Standard Reference Variome (KoVariome). As a part of the Korean Personal...

Topics

DNA Copy Number Variations
Databases, Genetic
Disease
Female
Genetics, Population
Genome, Human
High-Throughput Nucleotide Sequencing
Humans
INDEL Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Mutation

Polymorphism, Single Nucleotide

Reference Standards

Republic of Korea

Sequence Analysis, DNA

Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 29618732
DOI: 10.1038/s41598-018-23837-x
PMCID: PMC5885007

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