BH12.12/VariationRDF

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Genomic Variation情報のRDF化

目次

目標

Variation情報 + Omics注釈情報の統合

「①Variation解析結果」と「②GeneSet情報」をRDFを介して統合して、新規知見を導く。BH12.12では統合DB微生物の放線菌を事例に実装する。 DDBJ piplineのGenome ReferenceとSRAの比較解析後のVariation情報 (Annovar, GVF) のRDF化を視野に入れる

参加者

  • 藤澤
  • 神沼

追加してください

BH12.12での作業

Reference(放線菌Storeptomyces coelicolor M145)に対するS.lividans TK24のVariation情報+SBML生成

※S.lividans 66についてはLewis et al.,2010参照

  1. TogoAnnotation streptomyces含むテストデータのtriple化 (fin by fujisawa)
  2. 提案内容の紹介 to DBCLS+統合微生物関係者 (fin at SPARQLthon12/12/03)
  3. データ、作業環境の共有 (fin 12/12/19)

(ToDo)

  • S.lividansのVariation情報をSPARQL endpointで出力
  • S.lividansのVariation情報→RDF→SBMLファイル生成のフロー構築

調査データ

sample sequence data
Source Year Accession Strain
REFSEQ 2002 NC_003888.3 Streptomyces coelicolor A3(2)
SRA 2008 SRA002846 SRS001037 Streptomyces lividans TK24
SRA 2010 SRA050038 SRS151654 Streptomyces violaceusniger Tu 4113
SRA 2012 SRA060310 SRS372023 Streptomyces sp. HPH0547 [Taxonomy ID: 1203592]
SRA SRA089971 SRS439072 Streptomyces sp. TAA204
SRA SRA090119 SRS440666 Streptomyces sp. TAA040
SRA SRA090649 SRS441180 Streptomyces sp. CNT318
SRA SRA090029 SRS439118 Streptomyces sp. CNQ865
SRA SRA090033 SRS439121 Streptomyces sp. CNT360
SRA SRA090027 SRS439116 Streptomyces sp. CNH287
SRA SRA090120 SRS440668 Streptomyces sp. TAA486

S.coelicolorのSBMLファイル.

S.lividans 66の情報

調査オントロジー

  • ALFRED => polymorphism / allele frequency
  • VariO => variation information
  • Starpath => pathway + orthology
  • SO/FALDO => sequence type / genomic location
  • MAO: => multiple alignment
  • GELO => genomic element ontology (aligning array probes to RefSeq identifiers)

Ontologies download site

テスト環境

結果

  • Triple dataset(作業中)
Statistics
1 triple# 369,317
2 predicate# 11

S lividans : alignment / variation detection

- genome coverage 92%, sequence depth 18x
- 27588 SNPs and 779 indels
  • SPARQL endpoint(未)

http://semantic.annotation.jp/sparql/

追加データ

sample sequence data
Source Year Accession Strain
REFSEQ 1996 NC_000911.1 Synechocystis sp. PCC 6803 Kazusa strain
SRA --- SRA030087 SRS172931 Synechocystis sp. PCC 6803 Shestakov strain
DRA --- DRA000401 DRS000705 Synechocystis sp. PCC 6803 GT-I strain
DRA --- DRA000401 DRS000706 Synechocystis sp. PCC 6803 PCC-N strain
DRA --- DRA000401 DRS000707 Synechocystis sp. PCC 6803 PCC-P strain
SRA --- SRA056276 SRS------ Nostoc(Anabaena) sp. PCC7120
SRA 2009 SRA008127 SRS002043 Planktothrix rubescens NIVA CYA 98
SRA 2012 SRA061019 SRS373696 Calothrix sp. PCC 7507
SRA 2012 SRA061120 SRS373697 Stanieria cyanosphaera PCC 7437
SRA 2012 SRA061121 SRS373698 Pleurocapsa sp. PCC 7319
SRA 2012 SRA061122 SRS373699 Nostoc sp. PCC 7107
SRA 2012 SRA061123 SRS373927 Cyanobacterium stanieri PCC 7202

課題/将来構想

  • phenotype注釈情報の統合 formats(hapmap, plink) etc
  • phenotype含めた解析系構築(変異+形質検索, GWAS解析系構築, Trait予測, etc)
  • population情報の統合(allele mining, etc)


 

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