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The YH database: the first Asian diploid genome database

G. Li, L. Ma, C. Song, Z. Yang, X. Wang, H. Huang, Y. Li, R. Li, X. Zhang, H. Yang, J. Wang, J. Wang
2009 Nucleic Acids Research  
The YH database is a server that allows the user to easily browse and download data from the first Asian diploid genome.  ...  The YH database is currently one of the three personal genome database, organizing the original data and analysis results in a user-friendly interface, which is an endeavor to achieve fundamental goals  ...  ACKNOWLEDGEMENTS This work was supported by the Shenzhen Municipal Government and the Yantian District local government of Shenzhen.  ... 
doi:10.1093/nar/gkn966 pmid:19073702 pmcid:PMC2686535 fatcat:64aqnao6cnhwhbrhhfjydi64ay

Gevab: a prototype genome variation analysis browsing server

Woo-Yeon Kim, Sang-Yoon Kim, Tae-Hyung Kim, Sung-Min Ahn, Ha Byun, Deokhoon Kim, Dae-Soo Kim, Yong Lee, Ho Ghang, Daeui Park, Byoung-Chul Kim, Chulhong Kim (+3 others)
2009 BMC Bioinformatics  
The first Korean individual diploid genome sequence data (KOREF) was publicized in December 2008.  ...  Results: A Korean genome variation analysis and browsing server (Gevab) was constructed as a database and web server for the exploration and downloading of Korean personal genome(s).  ...  Recently, the first Asian (Chinese) diploid genome database was published, containing analysis and browsing facilities [5, 6] . There are a number of general purpose genome annotation servers.  ... 
doi:10.1186/1471-2105-10-s15-s3 pmid:19958513 pmcid:PMC2788354 fatcat:i75lnsz3ljeqhfbj2ffvcmzfoi

The diploid genome sequence of an Asian individual

Jun Wang, Wei Wang, Ruiqiang Li, Yingrui Li, Geng Tian, Laurie Goodman, Wei Fan, Junqing Zhang, Jun Li, Juanbin Zhang, Yiran Guo, Binxiao Feng (+65 others)
2008 Nature  
Here we present the first diploid genome sequence of an Asian individual. The genome was sequenced to 36-fold average coverage using massively parallel sequencing technology.  ...  of the Asian individual's genome.  ...  Acknowledgements We are indebted to the faculty and staff of Beijing Genomics Institute at Shenzhen, whose names were not included in the author list, but who contributed to this work.  ... 
doi:10.1038/nature07484 pmid:18987735 pmcid:PMC2716080 fatcat:6it7qj4vmvhz3dgtflnpboygeq

The first Korean genome sequence and analysis: Full genome sequencing for a socio-ethnic group

S.-M. Ahn, T.-H. Kim, S. Lee, D. Kim, H. Ghang, D.-S. Kim, B.-C. Kim, S.-Y. Kim, W.-Y. Kim, C. Kim, D. Park, Y. S. Lee (+9 others)
2009 Genome Research  
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  ...  We present the first Korean individual genome sequence (SJK) and analysis results.  ...  Although the first Asian genome based on the genome sequencing of a Han Chinese was recently reported (Wang et al. 2008) , various SNP studies have shown that ethnic groups in Asia, including the Chinese  ... 
doi:10.1101/gr.092197.109 pmid:19470904 pmcid:PMC2752128 fatcat:7femyge44fcblofgi5ldlhvdee

De novo assembly of a haplotype-resolved human genome

Hongzhi Cao, Honglong Wu, Ruibang Luo, Shujia Huang, Yuhui Sun, Xin Tong, Yinlong Xie, Binghang Liu, Hailong Yang, Hancheng Zheng, Jian Li, Bo Li (+29 others)
2015 Nature Biotechnology  
The human genome is diploid, and knowledge of the variants on each chromosome is important for the interpretation of genomic information.  ...  Here we report the assembly of a haplotype-resolved diploid genome without using a reference genome.  ...  The authors declare no competing financial interests. Reprints and permissions information is available online at http://www.nature.com/ reprints/index.html.  ... 
doi:10.1038/nbt.3200 pmid:26006006 fatcat:pz4srfqkgbeyrk6pbs2gdijdfq

An integrated Asian human SNV and indel benchmark established using multiple sequencing methods

Chuanfeng Huang, Libin Shao, Shoufang Qu, Junhua Rao, Tao Cheng, Zhisheng Cao, Sanyang Liu, Jie Hu, Xinming Liang, Ling Shang, Yangyi Chen, Zhikun Liang (+9 others)
2020 Scientific Reports  
Sequencing technologies have been rapidly developed recently, leading to the breakthrough of sequencing-based clinical diagnosis, but accurate and complete genome variation benchmark would be required  ...  Our study provided comprehensive sequencing data as well as the integrated variation benchmark of an Asian derived cell line, which would be valuable for future sequencing-based clinical development.  ...  Xin Liu for his guidance on the project and technical assistance.  ... 
doi:10.1038/s41598-020-66605-6 pmid:32555294 fatcat:udqhyjx4h5fbdk4b3jnexwz7ta

High-performance single-chip exon capture allows accurate whole exome sequencing using the Illumina Genome Analyzer

Tao Jiang, Lei Yang, Hui Jiang, Geng Tian, XiuQing Zhang
2011 Science China Life Sciences  
Here we present an adaptation of NimbleGen 2.1M-probe array sequence capture for whole exome sequencing using the Illumina Genome Analyzer (GA) platform.  ...  High-performance single-chip exon capture allows accurate whole exome sequencing using the Illumina Genome Analyzer. Sci China Life Sci, 2011, 54: 945 -952,  ...  The consensus YH genome (the first Asian diploid genome) is from http://yh. genomics.org.cn/.  ... 
doi:10.1007/s11427-011-4232-4 pmid:22038007 fatcat:u47f3vyjcvgmnpuhyh6vhfr22m

Single-Cell Exome Sequencing and Monoclonal Evolution of a JAK2-Negative Myeloproliferative Neoplasm

Yong Hou, Luting Song, Ping Zhu, Bo Zhang, Ye Tao, Xun Xu, Fuqiang Li, Kui Wu, Jie Liang, Di Shao, Hanjie Wu, Xiaofei Ye (+28 others)
2012 Cell  
To perform our analyses, we first devised and validated a high-throughput whole-genome single-cell sequencing method using two lymphoblastoid cell line single cells.  ...  Here, we describe a method for analyzing the cancer genome at a single-cell nucleotide level.  ...  ACCESSION NUMBERS All sequencing data from this study are deposited in NCBI Sequence Read Archive (http://www.ncbi.nlm.nih.gov/sra) under the accession number SRA050202.  ... 
doi:10.1016/j.cell.2012.02.028 pmid:22385957 fatcat:qymjmcvvizekvh5b2aoq3bo3ma

An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes

Yun Sung Cho, Hyunho Kim, Hak-Min Kim, Sungwoong Jho, JeHoon Jun, Yong Joo Lee, Kyun Shik Chae, Chang Geun Kim, Sangsoo Kim, Anders Eriksson, Jeremy S. Edwards, Semin Lee (+5 others)
2016 Nature Communications  
In 2015, a haplotype-resolved diploid YH genome was assembled using fosmid pooling together with short-read sequence data 13 .  ...  In 2007, the diploid genome of a Caucasian male was sequenced and assembled using Sanger sequencing technology (HuRef) 8 .  ... 
doi:10.1038/ncomms13637 pmid:27882922 pmcid:PMC5123046 fatcat:plhessiswbarxf7b63auvdf3ni

Ethnically relevant consensus Korean reference genome towards personal reference genomes [article]

Yun Sung Cho, Hyunho Kim, Hak-Min Kim, Sungwoong Jho, JeHoon Jun, Yong Joo Lee, Kyun Shik Chae, Chang Geun Kim, Sangsoo Kim, Anders Eriksson, Jeremy S Edwards, Semin Lee (+4 others)
2016 bioRxiv   pre-print
KOREF is also the first consensus variome reference, providing information on millions of variants from additional ethnically homogeneous personal genomes.  ...  In the era of large-scale population genome projects, the leveraging of ethnicity-specific genome assemblies as well as the human reference genome will accelerate mapping all human genome diversity.  ...  In 2015, a haplotype-resolved diploid YH genome was assembled using fosmid pooling together with short-read sequence data 13 .  ... 
doi:10.1101/070805 fatcat:p7jhowonh5eq5g6qigbquk5m7m

Human Genome Sequencing in Health and Disease

Claudia Gonzaga-Jauregui, James R. Lupski, Richard A. Gibbs
2012 Annual Review of Medicine  
Personal diploid human genome sequences have been generated, and each has contributed to our better understanding of variation in the human genome.  ...  This review summarizes the initial steps undertaken in clinical implementation of personal genome information, and describes the application of whole-genome and exome sequencing to identify the cause of  ...  Asian Genomes The first Asian genome sequence to be published was the YH genome, derived from a Han Chinese individual (18) . Complete or partial deletions of 33 genes were detected in this genome.  ... 
doi:10.1146/annurev-med-051010-162644 pmid:22248320 pmcid:PMC3656720 fatcat:g5lkqr6l7vdvxec2cnxa4ztwg4

Draft Genome and Complete Hox-Cluster Characterization of the Sterlet (Acipenser ruthenus)

Peilin Cheng, Yu Huang, Hao Du, Chuangju Li, Yunyun Lv, Rui Ruan, Huan Ye, Chao Bian, Xinxin You, Junmin Xu, Xufang Liang, Qiong Shi (+1 others)
2019 Frontiers in Genetics  
in public databases.  ...  Conclusions: This draft genome makes up for the lack of genomic and molecular data of the sterlet and its Hox clusters.  ...  (4dTv) analysis to test the sturgeon-specific GD by comparing the sterlet genome to Asian arowana genome.  ... 
doi:10.3389/fgene.2019.00776 pmid:31543900 pmcid:PMC6739705 fatcat:t4lvfmywuvbtnddr4rysxds4qe

Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly

Yingrui Li, Hancheng Zheng, Ruibang Luo, Honglong Wu, Hongmei Zhu, Ruiqiang Li, Hongzhi Cao, Boxin Wu, Shujia Huang, Haojing Shao, Hanzhou Ma, Fan Zhang (+15 others)
2011 Nature Biotechnology  
Of the structural variations that we identified, 60.2% and We aligned the assembly of YH (Asian) and NA18507 (African) genome sequences against the NCBI human reference genome build 36 and refined the  ...  sequence the YH genome.  ...  DDBJ/EMBL/GenBank: ADDF000000000 (YH) and DAAB000000000 (NA18507). The versions described in this paper are the first versions, ADDF010000000 (YH) and DAAB010000000 (NA18507).  ... 
doi:10.1038/nbt.1904 pmid:21785424 fatcat:7ptftfivh5erzn3ldycfqcst4a

Long-read sequencing and de novo assembly of a Chinese genome

Lingling Shi, Yunfei Guo, Chengliang Dong, John Huddleston, Hui Yang, Xiaolu Han, Aisi Fu, Quan Li, Na Li, Siyi Gong, Katherine E. Lintner, Qiong Ding (+17 others)
2016 Nature Communications  
The assembly fully or partially fills 274 (28.4%) N-gaps in the reference genome GRCh38.  ...  Comparison to GRCh38 reveals 12.8 Mb of HX1-specific sequences, including 4.1 Mb that are not present in previously reported Asian genomes.  ...  We thank Ahmed Naguib from BioNano Genomics for providing technical assistance.  ... 
doi:10.1038/ncomms12065 pmid:27356984 pmcid:PMC4931320 fatcat:cojmval3lbgwtk7pvfvcinanrm

A highly annotated whole-genome sequence of a Korean individual

Jong-Il Kim, Young Seok Ju, Hansoo Park, Sheehyun Kim, Seonwook Lee, Jae-Hyuk Yi, Joann Mudge, Neil A. Miller, Dongwan Hong, Callum J. Bell, Hye-Sun Kim, In-Soon Chung (+33 others)
2009 Nature  
First, selected genomic regions were sequenced at very high depth using overlapping BAC clones.  ...  SNPs are compared between the Korean (AK1), Han Chinese (YH) and Yoruban (NA18507) genomes.  ...  Confirmation of structural variants on diploid GA sequencing. The putative structural variants were confirmed using diploid GA.  ... 
doi:10.1038/nature08211 pmid:19587683 pmcid:PMC2860965 fatcat:fxbejm2bunb6jcgv3szbcpc44m
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