ga4gh / ga4gh-server

Reference implementation of the APIs defined in ga4gh-schemas. RETIRED 2018-01-24
http://ga4gh.org
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Import data from Harvard Personal Genome Project (hackathon idea) #661

Open bwalsh opened 8 years ago

bwalsh commented 8 years ago

Download 1 of the 218 public whole genomes available.

For overview see: https://docs.google.com/presentation/d/10wcdBZMn2d66OBJY1cy3PMWeETJrhSXN5DguKkdxMe0/edit

For data download:

https://my.pgp-hms.org/public_genetic_data?utf8=%E2%9C%93&data_type=Complete+Genomics&commit=Search

jeromekelleher commented 8 years ago

Great idea @bwalsh, we should definitely look at this.

nouyang-curoverse commented 8 years ago

Happy to answer any questions about PGP data, and will be at the hackathon.

Also, direct link to the interactive phenotype explorer mentioned in the google presentation: http://curoverse.link/22d61dd43786c65cd175b04ad6954af0+3119/html/index.html

& a cheat sheet about the PGP data: https://github.com/PGPHarvard/data-summary

Thanks for bringing this up @bwalsh!

nouyang-curoverse commented 8 years ago

Additionally, if we wish to select for genomes linked to individuals with cancer, here are the participants who have responded with "yes" to having cancer at some point and have whole genomes https://docs.google.com/spreadsheets/d/1a5SwxjKS0krR0zopW5runpNdRMwbLFA19HnBK_1Qc0g/edit#gid=1782566022

hu43860C https://my.pgp-hms.org/profile_public?hex=hu43860C Squamous Cell Carcinoma hu04FD18 https://my.pgp-hms.org/profile_public?hex=hu04FD18 Basal cell skin cancer hu6E4515 https://my.pgp-hms.org/profile_public?hex=hu6E4515 Colon Cancer hu92C40A https://my.pgp-hms.org/profile_public?hex=hu92C40A Breast Cancer huB1FD55 https://my.pgp-hms.org/profile_public?hex=huB1FD55 Skin Cancer hu26B551 https://my.pgp-hms.org/profile_public?hex=hu26B551 Breast Cancer huFFAD87 https://my.pgp-hms.org/profile_public?hex=huFFAD87 F/H PROSTATE CANCER hu687B6B https://my.pgp-hms.org/profile_public?hex=hu687B6B endometrial cancer hu52B7E5 https://my.pgp-hms.org/profile_public?hex=hu52B7E5 Breast Cancer hu599905 https://my.pgp-hms.org/profile_public?hex=hu599905 Squamous Cell Carcinoma hu8073B9 https://my.pgp-hms.org/profile_public?hex=hu8073B9 Nasal Cancer hu868880 https://my.pgp-hms.org/profile_public?hex=hu868880 Kidney Cancer hu8A5FBF https://my.pgp-hms.org/profile_public?hex=hu8A5FBF Malignant melanoma