GENOMICS ENGLAND 100K RARE DISEASE & COMMON

Rare Disease (RD) data are presented at the level of RD families, RD pedigrees, and participants. Participants are consenting individuals who have had their genome sequenced. Pedigree members are extended members of the proband’s family. Rare Disease data are presented at the level of Rare Disease families (families of probands), Rare Disease pedigrees, and participants. Participants are individuals who have consented to be part of the project with the expectation that a sample of their DNA will be obtained and their genome sequenced. Pedigree members are extended members of the proband’s family, this includes participants as well a small amounts of deidentified data recorded to allow a full picture of the proband’s extended family. This additional information is extracted from the proband’s medical record. All Rare Disease table names are prefixed with “rare_diseases_”. Data at the Level of Rare Disease Families: rare_diseases_family: Data describing the families of rare disease probands participating in the 100,000 Genomes Project. It includes the family group type, the status of the family’s pre-interpretation clinical review and the settings that were chosen for the interpretation pipeline at the clinical review. rare_diseases_pedigree: Data describing the Rare Disease participants, linking pedigrees to probands and their family members. rare_diseases_pedigree_member: Data describing the Rare Disease pedigree members, similar to the data about each individual participant in the participant table (common data view, see section 8.2). It may also include additional data, such as the age of onset of predominant clinical features; data on links to other family members; as well as data collected only for Phenotypes. Data at the Level of Rare Disease Participants. The data presented in these tables provides information on disease progression and pertinent medical history: rare_diseases_participant_disease: Data describing the rare disease participants' disease type/subtype assigned to them upon enrolment, and the date of diagnosis. rare_diseases_participant_phenotype: Data describing the Rare Disease participants’ phenotypes. For each Rare Disease participant in the 100,000 Genomes Project, there are data about whether a phenotypic abnormality as defined by an HPO term is present and what the HPO term is, as well as the age of onset, the severity of manifestation, the spatial pattern in the body and whether it is progressive or not. Please note that these data are only available for a subset of the rare disease participants. rare_diseases_gen_measurement: For Rare Disease participants in the 100,000 Genomes Project, this table contains general measurements relevant to the disease, alongside the date that the measurements were taken on. Please note that these data are only available for a subset of the rare disease participants. rare_diseases_early_childhood_observation: For Rare Disease participants in the 100,000 Genomes Project, this table contains measurements and milestones provided by the GMCs, related to childhood development. Please note that these data are only available for a subset of the rare disease participants. rare_diseases_imaging For Rare Disease participants in the 100,000 Genomes Project, this table contains various data and measurements from past scans, alongside the date of the scans. Please note that these data are only available for a subset of the rare disease participants. rare_diseases_invest_genetic: For a proportion of Rare Disease participants in the 100,000 Genomes Project, this table contains information on any genetic tests carried out. Data characterising the genetic investigation is recorded alongside records of the sample tissue source and the type of testing laboratory. Please note that these data are only available for a subset of the rare disease participants. rare_diseases_invest_genetic_test_result: For a proportion of Rare Disease participants in the 100,000 Genomes Project, this table contains the results of any genetic tests carried out. Following on from the rare_diseases_invest_genetic table, a summary of the results is presented and contextualised by testing method and scope. Please note that these data are only available for a subset of the rare disease participants. rare_diseases_invest_blood_laboratory_test_report: For a proportion of Rare Disease participants in the 100,000 Genomes Project, this table contains the results of any blood tests carried out. Over 400 blood values are recorded alongside type and technique of testing and the status of the participating patient in the care pathway. Please note that these data are only available for a subset of the rare disease participants.

Webpage:
https://www.healthdatagateway.org/dataset/239e8253-a997-4676-8940-16b74a004365

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

Tags:

rare disease genome genomics data dna data-can

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