GENOMICS ENGLAND 100K QUICK VIEW

Data views that bring together data from several LabKey tables for convenient access Quickviews bring together data from several LabKey tables for convenient access, including: rare_disease_analysis Data for all rare disease participants including: sex, ethnicity, disease recruited for and relationship to proband; latest genome build, QC status of latest genome, path to latest genomes and whether tiering data are available; as well as family selection quality checks for rare disease genomes on GRCh38, reporting abnormalities of the sex chromosomes, family relatedness, Mendelian inconsistencies and reported vs genetic sex summary checks. Please note that only sex checks are unpacked into individual data fields; a final status is shown in the “genetic vs reported results” column. cancer_analysis Data for all cancer participants whose genomes have been through Genomics England bioinformatics interpretation and passed quality checks, including: sex, ethnicity, disease recruited for and diagnosis; tumour ID, build of latest genome, QC status of latest genome and path to latest genomes; as well file paths to the genomes. This table includes information derived from laboratory_sample and cancer_participant_tumour. Please find information regarding the data release here: https://cnfl.extge.co.uk/pages/viewpage.action?pageId=135709957#ReleaseV8(28/11/2019)-ReleaseOverview

Webpage:
https://www.healthdatagateway.org/dataset/15efea36-d022-495c-a5b6-90f51631a643

Licence:
Name: HDR UK Innovation Gateway Access
URL: https://www.hdruk.ac.uk/infrastructure/gateway/terms-and-conditions/

Tags:

cancer rare disease genome genomics dna data data-can

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