1Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul 110-799, Korea
2Psoma Therapeutics Inc. Seoul 110-799, Korea
3Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Seoul 110-799, Korea
4Macrogen Inc., Seoul 153-801, Korea
5Department of Biomedical Sciences, Seoul National University Graduate School, Seoul 110-799, Korea
6Department of Pathology, Brigham and Womenâ€™s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
The Total Integrated Archive of short-Read and Array (TIARA) accumulates raw-level personal genomic data from whole genome next-generation sequencing (NGS) and comparative genomic hybridization (CGH) arrays. Initially, it contains 36 individual genomic data sets that have been analyzed and reported by the Genomic Medicine Institute (GMI) at Seoul National University (1,2,3). TIARA improves the accuracy of detecting personal genomic variations, such as SNPs, short indels, and structural variants (SVs). TIARA supports a user-friendly genome browser, which retrieves read-depths (RDs) and log2 ratios from NGS and CGH arrays, respectively. In addition, TIARA provides information on all genomic variants and the raw data, including short reads and feature-level CGH data, through anonymous file transfer protocol (FTP).
Recently, the genome browser of TIARA has the functions of displaying SNPs, indels, Read Depths (RD) with Refseq genes from high-throughput sequencing, copy number variants (CNVS) regions and log2 ratio for high-resolution CGH array. Moreover, a genome-wide map summarizing the location and allele frequency for each SNPs can be found in TIARA. In detail, massively parallel sequencing data from six Korean genomes (AK3, AK5, AK7, AK9, AK14, and AK20) were sequenced using the Illumina Genome Analyzer IIx and deposited in TIARA. In addition, genomic variants such SNPs, indels, and CNV regions and read RDs for those data were also browsed and downloaded in genome browser of TIARA.
TIARA was supported by the Korean Ministry of Knowledge Economy [grant number 0411-20100061], the Korean Ministry of Education, Science, and Technology [grant number 2010-0013662], Green Cross Therapeutics [grant number 0411-20080023]. Funding for open access charge: Korean Ministry of Education, Science, and Technology [grant number 2010-0013662]
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