/GemDb37

Variant database for human genome build 37, includes public annotations and various TGen projects.

Primary LanguagePerl

GemDb37

MongoDb Variant database for human genome build 37, includes public annotations and various TGen projects.

Access - Download Robo 3T (open source) or your favorite MongoDb GUI port: 25755 server: labdb01.tgen.org

db: markers collection: germline or tumor


Indexes - In Mongo since it is no-sql, it instead uses "indexes" on fields. When you look under the 'tumor' collection there is a folder called 'Indexes'. If you query using the fields that are listed there then your queries will be fast, otherwise they will be slow.

Queries (Quick Reference) - Look up mongodb queries - they are "json" based so they are fairly straightforward, although they can get more complex.

Examples -

For searching on a patient:
{'variants.studyPatient':'mystudy.mypatient'}

For searching on a study:
{'study':'myStudy'}

If a patient has multiple samples:
{'variants.projectRun':'myprojectrun'} 

VCF/Annotations -

The VCF file is contained within the "variants" subdocument

For searching a 'biomarker' event or 'variant':
    {'coord':'chr1:1038971:A:C'}

As far as where the annotations/snpeff are (they are in subdocument structure):
    "annotate"    
    "snpeff"

Other important fields : "effect" (contains gene and the mutation/event) "gene" "aberration" subdocument - contains mutation/event info "variants.filter" - PASS, LOWQC determined by GemDb.