变体数据标准Variome Data Stardands.pdf

VariomeDataStandards

Version1.0beta,15June2017

TheBIGDataCenter,workingcollaborativelywithmultiplepartnerinstitutions/laboratories,

developstheVariomeDataStandardsforvariationdatarepresentation,analysis,searchand

exchange.Wesuggestsubmittersoruserstofollowthesestandardsinpreparingthemetadatadata,

filesanddataanalysis.WealsogiveadetaileddescriptiononnomenclaturestandardsinGVM

aboutvariationID,annotationnomenclatureet.al.Thesestandardsareourversion1.0beta;please

feelfreetocontactus(gvm@)ifyouhaveanysuggestions.

1

Outline

1.Metadata3

1.1Submitterdetails3

1.2Projectinfo3

1.3Sampledetails3

1.4Analysismethods4

1.5Filenames5

2.Fileformat5

2.1VCF5

2.2Hapmap6

3.Dataanalysisstandards7

3.1SNPsmallI/D7

3.1.1Sequencingdataanalysis7

3.1.2Arraydataanalysis9

3.2LargeI/D(comingsoon)10

3.3CNV(unavailable)10

3.4SV(unavailable)10

4.Nomenclaturestandards10

4.1VariationIDNomenclature10

4.2Shortennameoftheorganisms11

4.4Variationannotation16

4.5PfamAnnotate20

4.6NucleotidesandAminoAcidnomenclature21

5.Reference22

2

1.Metadata

Metadataisdatathatprovidesinformationaboutthesubmitterandthesubmitteddata.We

encourageouruserstosubmitasmuchmetadataaspossible.Increasedmetadatacreatesmuch

greatervisibilityofyourdata