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YH specifications


Unique identifier OMICS_21378
Name YH
Alternative name YanHuang
Restrictions to use Academic or non-commercial use
Database management system MySQL
Community driven No
Data access File download, Browse
User data submission Not allowed
Maintained Yes


  • Primates
    • Homo sapiens


  • person_outline Jun Wang
  • person_outline Jian Wang

Publication for YanHuang

YH citations


Diagnosis for choroideremia in a large Chinese pedigree by next generation sequencing (NGS) and non invasive prenatal testing (NIPT)

PMCID: 5367376
PMID: 28098911
DOI: 10.3892/mmr.2017.6119
call_split See protocol

[…] database (dbSNP)137, the National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Database, the National Institute of Environmental Health Sciences (NIEHS) Exome Sequencing Database, the YanHuang Project Database, and an internal control database of 997 exomes, were used to filter out common polymorphisms at an allele frequency >0.5% in all the above databases (,). To remove synonymou […]


Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita

PLoS One
PMCID: 4452087
PMID: 26030151
DOI: 10.1371/journal.pone.0127529
call_split See protocol

[…] .nih.gov/projects/SNP/snp_summary.cgi), 1000 genomes project (1000genomes release_20100804, http://www.1000genomes.org/), HapMap project (2010–08_phase II + III, http://hapmap.ncbi.nlm.nih.gov/), and YanHuang (http://yh.genomics.org.cn/) project.Multiple alignment of the protein sequence was performed across different species by the Basic Local Alignment Search Tool (http://blast.st-va.ncbi.nlm.ni […]


Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing

Biomed Res Int
PMCID: 4449926
PMID: 26075273
DOI: 10.1155/2015/907827
call_split See protocol

[…] las2) []. Several common variant databases (such as the 1000 Genomes Database (Build 20110521 and 20101123) [], dbSNP137 [], NHLBI GO Exome Sequencing Database [], NIEHS Exome Sequencing Database [], YanHuang Project Database (http://yh.genomics.org.cn/), and an internal control database of 997 exomes) were used to filter out common polymorphisms with an allele frequency higher than 0.5% in any of […]


A Novel COL4A5 Mutation Identified in a Chinese Han Family Using Exome Sequencing

Biomed Res Int
PMCID: 4109303
PMID: 25110662
DOI: 10.1155/2014/186048

[…] (II: 1, III: 1, III: 3, and IV: 1; ), while being absent in unaffected members and 100 ethnically matched normal controls by Sanger sequencing (). It is also absent in 1,000 genomes project, HapMap, YanHuang1 (YH1) project, and dbSNP. The mutation is located in the Gly-X-Y repeats. The p.Pro167 is a highly conserved amino acid residue among different species from chicken to human, suggesting its […]


OTG snpcaller: An Optimized Pipeline Based on TMAP and GATK for SNP Calling from Ion Torrent Data

PLoS One
PMCID: 4019570
PMID: 24824529
DOI: 10.1371/journal.pone.0097507

[…] . The duplication rate increased as the AS threshold increased, and this rate stabilizedat57% when the AS exceeded 160. Simultaneously, the false positive rate, total SNP number and overlap rate with YanHuang-Whole Genome Sequencing (YH-WGS) decreased (). When the AS was higher than 100, many of the duplicates were removed. The remaining reads are therefore more reliable, indicating that the SNP a […]


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YH institution(s)
Beijing Genomics Institute at Shenzhen, Shenzhen, China; The Graduate University of Chinese Academy of Sciences, Beijing, China; Department of Biochemistry and Molecular Biology, University of Southern Denmark, Odense, Denmark
YH funding source(s)
Supported by the National Natural Science Foundation of China (30725008; 90608010; 30221004; 90612019); the Chinese 973 program (2007CB815701; 2007CB815703; 2007C B815705); the Chinese 863 program (2006AA02Z177; 2006AA02Z334; 2006AA10A121); the Beijing Municipal Science and Technology Commission (D07030200740000); Ministry of Education (XXBKYHT2006001); the Danish Platform for Integrative Biology, the Ole Rømer grant from the Danish Natural Science Research Council, the pig bioinformatics grant from Danish Research Council and the Solexa project (272-07-0196).

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