ArticleGenome research2009
The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group.
Article in Genome research, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 174 papers, 1 of them a synthesis that pooled it.
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Who cites it
174 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Vertical lossless genomic data compression tools for assembled genomes: A systematic literature review.PloS one · 2020Pooled it
- National genomic projects in Asia and Africa: a review.Human genomics · 2026Review
- Examining Linguistic Differences in Electronic Health Records for Diverse Patients With Diabetes: Natural Language Processing Analysis.JMIR medical informatics · 2024Article
- Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge.Frontiers in genetics · 2023Article
- SparkGC: Spark based genome compression for large collections of genomes.BMC bioinformatics · 2022Article
- Expanding the conservation genomics toolbox: Incorporating structural variants to enhance genomic studies for species of conservation concern.Molecular ecology · 2021Article
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- Korean Genome Project: 1094 Korean personal genomes with clinical information.Science advances · 2020Article
- Comparison of multiple algorithms to reliably detect structural variants in pears.BMC genomics · 2020Article
- KRGDB: the large-scale variant database of 1722 Koreans based on whole genome sequencing.Database : the journal of biological databases and curation · 2020Article
- Whole-exome sequencing indicatesExperimental biology and medicine (Maywood, N.J.) · 2019Article
- HRCM: An Efficient Hybrid Referential Compression Method for Genomic Big Data.BioMed research international · 2019Article
- Large-scale deletions of theJournal of lipid research · 2018Article
- npInv: accurate detection and genotyping of inversions using long read sub-alignment.BMC bioinformatics · 2018Article
- Algorithms designed for compressed-gene-data transformation among gene banks with different references.BMC bioinformatics · 2018Article
- Whole genome variant analysis in three ethnically diverse Indians.Genes & genomics · 2018Article
- KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses.Scientific reports · 2018Article
- Effects of short indels on protein structure and function in human genomes.Scientific reports · 2017Article
- Short Read Mapping: An Algorithmic Tour.Proceedings of the IEEE. Institute of Electrical and Electronics Engineers · 2017Article
- Accurate prediction of functional effects for variants by combining gradient tree boosting with optimal neighborhood properties.PloS one · 2017Article
114 more citing papers are in PubMed but not listed here.
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Authors and funding
21 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We present the first Korean individual genome sequence (SJK) and analysis results. The diploid genome of a Korean male was sequenced to 28.95-fold redundancy using the Illumina paired-end sequencing method. SJK covered 99.9% of the NCBI human reference genome. We identified 420,083 novel single nucleotide polymorphisms (SNPs) that are not in the dbSNP database. Despite a close similarity, significant differences were observed between the Chinese genome (YH), the only other Asian genome available, and SJK: (1) 39.87% (1,371,239 out of 3,439,107) SNPs were SJK-specific (49.51% against Venter's, 46.94% against Watson's, and 44.17% against the Yoruba genomes); (2) 99.5% (22,495 out of 22,605) of short indels (< 4 bp) discovered on the same loci had the same size and type as YH; and (3) 11.3% (331 out of 2920) deletion structural variants were SJK-specific. Even after attempting to map unmapped reads of SJK to unanchored NCBI scaffolds, HGSV, and available personal genomes, there were still 5.77% SJK reads that could not be mapped. All these findings indicate that the overall genetic differences among individuals from closely related ethnic groups may be significant. Hence, constructing reference genomes for minor socio-ethnic groups will be useful for massive individual genome sequencing.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.