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What dashboards are available in Data Discovery?

There are six dashboards available in Data Discovery:

  • 100,000 Genomes Project cohort overview
  • 100,000 Genomes Project Rare disease specific
  • 100,000 Genomes Project Cancer specific
  • 100,000 Genomes Project Combined cancer and rare disease participants
  • NHS Genomic Medicine Service Cohort
  • All NHS Genomic Medicine Service and 100,000 Genomes project cohort participants

Using the dashboards

You can search the dashboards by clicking on the graphs, using the search bar or with the drop-down filter controls.

All the visualisations are data driven, therefore your search will lead to changes in the corresponding charts and graphs.

Dashboards available

There are six dashboards available. Here is a list of dashboards and the drop-down filters available for each one.

100kGP Cohort Overview dashboard

The 100kGP Cohort Overview dashboard contains summary statistics for the 100kGP cohort.

There are no drop-down filters for the 100kGP cohort overview.

Graphs available

  • Participants per programme
  • Participants by programme and genome build
  • Sarscov2 tested participants
  • Rare disease groups (Top 20)
  • Rare disease sub-groups (Top 30)
  • Specific rare disease (Top 30)
  • Cancer primary sites - individuals with quality passed interpreted genomes (Top 30)
  • Cancer primary sites (Top 30, all cancer participants)
  • Cancer sub-types (Top 30, all cancer participants)
Graphs examples

Source: Secondary Data from NHSE.

Source: GMC Recruited - Primary Data

Source: GMC Recruited - Primary Data

100kGP Cohort Rare disease dashboard

The 100kGP Cohort Rare disease dashboard contains details of rare disease participants in 100kGP cohort. You can filter this cohort to find rare disease participants of interest.

Filters available
Filter Description Source When to use
Genome build Currently there are two Genome reference builds for this drop-down filter, Build GRCh37 and Build GRCh38. Note, that some participants will have genome sequences in both Build GRCh37 and Build GRCh38. The data for the genome build comes from the Bioinformatics Pipeline. You want to find out which reference build your participants of interest have had their genomes aligned against.
Disease Group Top level disease grouping for participants recruited to the rare disease arm of the project. GMC - Recruited - Primary Data. You want to find out the number of participants in the top level disease grouping.
Disease Sub Group Breakdown of the top-level disease grouping for participants recruited to the rare disease arm of the project. GMC Recruited - Primary Data. You need a more granular breakdown of the top level disease grouping.
Specific Disease This drop-down filter contains the lowest level breakdown of diseases from the Disease subgroup for participants recruited to the rare disease arm of the project. GMC Recruited - Primary Data. You want to find out the number of participants affected by a specific disease(s).
Proband/Relative This drop-down filter selects participants that are recruited to the rare disease arm of the project that are Probands or Relatives of Probands. GMC Recruited - Primary Data. You want to find out participants who are Probands or Relatives.
Affected Status There are two options available for this drop-down filter, Affected and Unaffected. GMC Recruited - Primary Data. You want to find out members of a family that are either affected or not affected by the rare disease of interest which the participant was recruited for.
Family Group Type This drop-down filter describes the family setup e.g. Trio with mother and father, Duo with mother or father, Singleton. GMC Recruited - Primary Data. You want to gain some insight on family history and relationship with individual affected.
Stated Gender This drop-down filter has several options for example - Male, Female, Not Known and Not Specified. GMC Recruited - Primary Data. You want to find out the gender of participants.
Stated Ethnic Category This drop-down filter allows you to select ethnicity of participants, note ethnicity is indicated as stated by the participant. GMC Recruited - Primary Data. For example, you want to find out if a Rare Disease is confined to specific ethnicities.
Life Status This drop-down filter has two options, deceased and not reported. Combination of recruited GMC data and secondary data from NHSE. You want to find out treatment outcomes for participants.
GMC Trust This drop-down filter allows you to select from the 13 Genomic Medicine Centres across England. GMC Recruited Primary Data You want to find at a high-level geographic distribution of participants. (Includes Scotland, NI and Wales)
Current age range This drop-down filter lists the age range to select. Derived from GMC Recruited Date of Birth You want to find current age range of participants in your cohort of interest.
Current age This drop-down filter lists participants by age. GMC Recruited - Primary Data (derived from date of birth and date of 100kGP Data Release). You want to find the current age of participants in your cohort of interest.
HPO (type to search) Select HPO code(s) describing phenotypic abnormalities encountered in human disease. GMC – Recruited Primary Data You are interested in participants with selected HPO code(s) You only need to type in the first few characters of either the disease or HPO code and a drop down list of results appears. Note the search field is case sensitive. Starting your search term with a lower-case character, the search term will appear within the search results e.g. Type in ‘diabetes’ in the search field hpo (type to search):

Starting your search term with an upper-case character, the search term will appear at the start of the line within the search results. E.g. type in ‘Diabetes’ in the search field hpo (type to search):
Diagnosis (type to search) Select participants with a specific diagnosis. Secondary data from NHSE You want to build a cohort with participants who have a specific diagnosis. Note the search field is case sensitive.
Procedure (type to search) Select participants who have undergone a specific procedure. Secondary data from NHSE You want to build a cohort with participants that have undergone a specific procedure. Note the search field is case sensitive.
Gene (type to search) Select participants who have tiered variant on gene of interest. Genomics England Bioinformatics Pipeline You want to build a cohort with participants who have tiered variant on your gene of interest. Note the search field is case sensitive. See the example above.

Graphs available

  • Top 20 HPO terms
  • Top 20 diagnoses (in-patient and out-patient - longitudinal)
  • Top 20 procedures (in-patient and out-patient - longitudinal)
  • Top 20 tiered genes from tiered variants
Graphs examples

Source: GMC Recruited - Primary Data

Source: Secondary Data from NHSE

Source: Genomics England Bioinformatics Pipeline

100kGP Cohort Cancer dashboard

The 100kGP Cohort Cancer dashboard contains details of cancer participants in 100kGP cohort. You can filter this cohort to find cancer participants of interest.

Filters available
Filter Description Source When to use
Genome Quality Individuals with Quality Passed Interpreted Genomes. Selection of this filter on the Cancer dashboard will select only participants who have a genome that has been sequenced on build GRCh38 that has been through the Genomics England Bioinformatics Interpretation pipeline and has passed checks for quality. Note that some of these participants may also have genomes sequenced on build GRCh37. These genome builds will also show in the Genome Build pie chart on the dashboard. The data for the Genome build comes from the Bioinformatics Pipeline. You want to select participants whose Genomes have been interpreted and passed for quality.
Genome build Currently there are two Genome reference builds for this drop-down filter, Build GRCh37 and Build GRCh38. Note, that some participants will have genome sequences in both Build GRCh37 and Build GRCh38. The data for the genome build comes from the Bioinformatics Pipeline. You want to find out which reference build your participants of interest have had their genomes aligned against.
Cancer Primary Site This drop-down filter allows you to select one or more primary cancer sites. GMC Recruited - Primary Data. You want to select participants whose genomes have been passed for quality.
Cancer Sub-type This filter allows you to select one or more sub- cancer types. The Cancer sub-type value is concatenation of Cancer primary and the Cancer sub-type e.g. Lung_Adenocarcinoma.
GMC Recruited - Primary Data. You want to select participants affected with one or more cancer sub-types. You want to select participants affected with one or more cancer sub-types.
Stated Gender This drop-down filter has several options for example - Male, Female, Not Known and Not Specified. GMC Recruited - Primary Data. You want to find out the gender of participants.
Stated Ethnic Category This drop-down filter allows you to select ethnicity of participants, note ethnicity is indicated as stated by the participant. GMC Recruited - Primary Data. For example, you want to find out if a Rare Disease is confined to specific ethnicities.
Life Status This drop-down filter has two options, deceased and not reported. Combination of recruited GMC data and secondary data from NHSE. You want to find out treatment outcomes for participants.
GMC Trust This drop-down filter allows you to select from the 13 Genomic Medicine Centres across England. GMC Recruited Primary Data You want to find at a high-level geographic distribution of participants. (Includes Scotland, NI and Wales)
Current age range This drop-down filter lists the age range to select. Derived from GMC Recruited Date of Birth You want to find current age range of participants in your cohort of interest.
Current age This drop-down filter lists participants by age. GMC Recruited - Primary Data (derived from date of birth and date of 100kGP Data Release). You want to find the current age of participants in your cohort of interest.
Diagnosis (type to search) Select participants with a specific diagnosis. Secondary data from NHSE You want to build a cohort with participants who have a specific diagnosis. Note the search field is case sensitive.
Procedure (type to search) Select participants who have undergone a specific procedure. Secondary data from NHSE You want to build a cohort with participants that have undergone a specific procedure. Note the search field is case sensitive.

Graphs available

  • Top 20 diagnoses (in-patient and out-patient - longitudinal)
  • Top 20 procedures (in-patient and out-patient - longitudinal)
Graphs examples

Source: Secondary Data from NHSE

*Note: the visualisation only displays cancer specific codes in the range C00 through to D codes up to D48(inclusive) will be displayed.

100kGP Cohort All participants

The 100kGP Cohort All dashboard contains details of both rare disease and cancer participants in 100kGP cohort. This allows you to search across all of 100kGP to find participants of interest.

Filters available
Filter Description Source When to use
Genome build Currently there are two Genome reference builds for this drop-down filter, Build GRCh37 and Build GRCh38. Note, that some participants will have genome sequences in both Build GRCh37 and Build GRCh38. The data for the genome build comes from the Bioinformatics Pipeline. You want to find out which reference build your participants of interest have had their genomes aligned against.
Stated Gender This drop-down filter has several options for example - Male, Female, Not Known and Not Specified. GMC Recruited - Primary Data. You want to find out the gender of participants.
Stated Ethnic Category This drop-down filter allows you to select ethnicity of participants, note ethnicity is indicated as stated by the participant. GMC Recruited - Primary Data. For example, you want to find out if a Rare Disease is confined to specific ethnicities.
Life Status This drop-down filter has two options, deceased and not reported. Combination of recruited GMC data and secondary data from NHSE. You want to find out treatment outcomes for participants.
GMC Trust This drop-down filter allows you to select from the 13 Genomic Medicine Centres across England. GMC Recruited Primary Data You want to find at a high-level geographic distribution of participants. (Includes Scotland, NI and Wales)
Current age range This drop-down filter lists the age range to select. Derived from GMC Recruited Date of Birth You want to find current age range of participants in your cohort of interest.
Current age This drop-down filter lists participants by age. GMC Recruited - Primary Data (derived from date of birth and date of 100kGP Data Release). You want to find the current age of participants in your cohort of interest.
Disease Group Top level disease grouping for participants recruited to the rare disease arm of the project. GMC - Recruited - Primary Data. You want to find out the number of participants in the top level disease grouping.
Disease Sub Group Breakdown of the top-level disease grouping for participants recruited to the rare disease arm of the project. GMC Recruited - Primary Data. You need a more granular breakdown of the top level disease grouping.
Specific Disease This drop-down filter contains the lowest level breakdown of diseases from the Disease subgroup for participants recruited to the rare disease arm of the project. GMC Recruited - Primary Data. You want to find out the number of participants affected by a specific disease(s).
Cancer Primary Site This drop-down filter allows you to select one or more primary cancer sites. GMC Recruited - Primary Data. You want to select participants whose genomes have been passed for quality.
Cancer Sub-type This filter allows you to select one or more sub- cancer types. The Cancer sub-type value is concatenation of Cancer primary and the Cancer sub-type e.g. Lung_Adenocarcinoma.
GMC Recruited - Primary Data. You want to select participants affected with one or more cancer sub-types. You want to select participants affected with one or more cancer sub-types.
HPO (type to search) Select HPO code(s) describing phenotypic abnormalities encountered in human disease. GMC – Recruited Primary Data You are interested in participants with selected HPO code(s) You only need to type in the first few characters of either the disease or HPO code and a drop down list of results appears. Note the search field is case sensitive. Starting your search term with a lower-case character, the search term will appear within the search results e.g. Type in ‘diabetes’ in the search field hpo (type to search):

Starting your search term with an upper-case character, the search term will appear at the start of the line within the search results. E.g. type in ‘Diabetes’ in the search field hpo (type to search):
Diagnosis (type to search) Select participants with a specific diagnosis. Secondary data from NHSE You want to build a cohort with participants who have a specific diagnosis. Note the search field is case sensitive.
Procedure (type to search) Select participants who have undergone a specific procedure. Secondary data from NHSE You want to build a cohort with participants that have undergone a specific procedure. Note the search field is case sensitive.

Graphs available

  • Top 20 HPO terms
  • Top 20 diagnoses (in-patient and out-patient - longitudinal)
  • Top 20 procedures (in-patient and out-patient - longitudinal)
  • Top 20 tiered genes from tiered variants
Graphs examples

Source: Secondary Data from NHSE

Source: GMC Recruited - Primary Data

NHS GMS Cohort

The NHS GMS Cohort Cohort All dashboard contains details of both rare disease and cancer participants in NHS GMS cohort. This allows you to search across all of NHS GMS to find participants of interest.

Filters available
Filter Description Source When to use
Participant ID Search for participants by ID When you know the participant ID and want to see a breakdown of diagnoses
Referral ID Search for families by ID When you know the referral ID and want to see a breakdown of diagnoses
Clinical indication Top level disease grouping for participants. GMC - Recruited - Primary Data. You want to find out the number of participants in the top level disease grouping.
Genome delivery Currently there are two Genome reference builds for this drop-down filter, Build GRCh37 and Build GRCh38. Note, that some participants will have genome sequences in both Build GRCh37 and Build GRCh38. The data for the genome build comes from the Bioinformatics Pipeline. You want to find out which reference build your participants of interest have had their genomes aligned against.
Administrative Gender This drop-down filter has several options for example - Male, Female, Not Known and Not Specified. GMC Recruited - Primary Data. You want to find out the gender of participants.
Ethnic Category This drop-down filter allows you to select ethnicity of participants, note ethnicity is indicated as stated by the participant. GMC Recruited - Primary Data. For example, you want to find out if a Rare Disease is confined to specific ethnicities.
Proband / not proband This drop-down filter selects participants that are recruited to the rare disease arm of the project that are Probands or non-probands. GMC Recruited - Primary Data. You want to find out participants who are Probands or Relatives.
Affected status Select participants based on whether they are affected. Affected participants may be relatives as well as probands. GMC Recruited - Primary Data. You want to find out participants who are are affected or not affected by rare disease
Referral group size This drop-down filter describes the number of members of the family. You want to gain some insight on family history and relationship with individual affected.
Life Status This drop-down filter has two options, deceased and not reported. Combination of recruited GMC data and secondary data from NHSE. You want to find out treatment outcomes for participants.
GMC ordering entity This drop-down filter allows you to select from the 13 Genomic Medicine Centres across England. GMC Recruited Primary Data You want to find at a high-level geographic distribution of participants. (Includes Scotland, NI and Wales)
Current age range This drop-down filter lists the age range to select. Derived from GMC Recruited Date of Birth You want to find current age range of participants in your cohort of interest.
Current age This drop-down filter lists participants by age. GMC Recruited - Primary Data (derived from date of birth and date of 100kGP Data Release). You want to find the current age of participants in your cohort of interest.
Observations Select HPO code(s) describing phenotypic abnormalities encountered in human disease. GMC – Recruited Primary Data You are interested in participants with selected HPO code(s) You only need to type in the first few characters of either the disease or HPO code and a drop down list of results appears. Note the search field is case sensitive. Starting your search term with a lower-case character, the search term will appear within the search results e.g. Type in ‘diabetes’ in the search field hpo (type to search):

Starting your search term with an upper-case character, the search term will appear at the start of the line within the search results. E.g. type in ‘Diabetes’ in the search field hpo (type to search):
Conditions This drop-down filter contains the lowest level breakdown of diseases from the Disease subgroup for participants recruited to the rare disease arm of the project. GMC Recruited - Primary Data. You want to find out the number of participants affected by a specific disease(s).
Gene (type to search) Select participants who have tiered variant on gene of interest. Genomics England Bioinformatics Pipeline You want to build a cohort with participants who have tiered variant on your gene of interest. Note the search field is case sensitive. See the example above.

Graphs available

  • Clinical indication for referral
  • Cancer / rare disease
  • Genome build and version
  • Proband / non-proband
  • Administrative gender
  • Disease affected status
  • Ethnic category
  • Referral group size
  • Referral observations (HPO)
  • Referral conditions (all included irrespective of certainty)
Graphs examples

Source: Primary Data from GLHs and Genomics England Bioinformatics Pipeline

The referral group size chart and filter is taken from the referral_test.referral_test_expected_number_of_participants Labkey data column. This differs from the similar chart on the NHS GMS & 100kGP Cross Cohort Dashboard.

Source: Primary Data from GLHs

The Observations and Conditions data, like much of the data, is only available for a subset of the participants in the cohort. The total number of participants with any of these data, meeting the current filters, are explicitly highlighted in the metric next to the bar chart.

All NHS GMS and 100kGP cohort participants

This dashboard combines the NHS GMS and 100kGP cohorts, allowing you to search across all participants in both cohorts.

Filters available
Filter Description Source When to use
Cohort 100kGP or NHS GMS When you want to include only one dataset
Rare disease / cancer When you want to work with one disease type
Genome delivery Currently there are two Genome reference builds for this drop-down filter, Build GRCh37 and Build GRCh38. Note, that some participants will have genome sequences in both Build GRCh37 and Build GRCh38. The data for the genome build comes from the Bioinformatics Pipeline. You want to find out which reference build your participants of interest have had their genomes aligned against.
Gender (stated/admin) This drop-down filter has several options for example - Male, Female, Not Known and Not Specified. GMC Recruited - Primary Data. You want to find out the gender of participants.
Proband / non proband This drop-down filter selects participants that are recruited to the rare disease arm of the project that are Probands or non-probands. GMC Recruited - Primary Data. You want to find out participants who are Probands or Relatives.
Affected status Select participants based on whether they are affected. Affected participants may be relatives as well as probands. GMC Recruited - Primary Data. You want to find out participants who are are affected or not affected by rare disease
Family/group size This drop-down filter describes the number of members of the family. You want to gain some insight on family history and relationship with individual affected.
Ethnic Category This drop-down filter allows you to select ethnicity of participants, note ethnicity is indicated as stated by the participant. GMC Recruited - Primary Data. For example, you want to find out if a Rare Disease is confined to specific ethnicities.
Life Status This drop-down filter has two options, deceased and not reported. Combination of recruited GMC data and secondary data from NHSE. You want to find out treatment outcomes for participants.
Current age range This drop-down filter lists the age range to select. Derived from GMC Recruited Date of Birth You want to find current age range of participants in your cohort of interest.
Current age This drop-down filter lists participants by age. GMC Recruited - Primary Data (derived from date of birth and date of 100kGP Data Release). You want to find the current age of participants in your cohort of interest.
Rare disease Group (100k only) Top level disease grouping for participants recruited to the rare disease arm of the project. GMC - Recruited - Primary Data. You want to find out the number of participants in the top level disease grouping.
Cancer Primary Sites (100k only) This drop-down filter allows you to select one or more primary cancer sites. GMC Recruited - Primary Data. You want to select participants whose genomes have been passed for quality.
Clinical indication Top level disease grouping for participants. GMC - Recruited - Primary Data. You want to find out the number of participants in the top level disease grouping.
HPO terms (type to search) Select HPO code(s) describing phenotypic abnormalities encountered in human disease. GMC – Recruited Primary Data You are interested in participants with selected HPO code(s) You only need to type in the first few characters of either the disease or HPO code and a drop down list of results appears. Note the search field is case sensitive. Starting your search term with a lower-case character, the search term will appear within the search results e.g. Type in ‘diabetes’ in the search field hpo (type to search):

Starting your search term with an upper-case character, the search term will appear at the start of the line within the search results. E.g. type in ‘Diabetes’ in the search field hpo (type to search):

Graphs available

  • Cancer / rare disease
  • Cohort
  • Gender (stated or admin)
  • Proband / non-proband
  • Disease affected status
  • Family/group size
  • Genome build and version
  • Ethnic category
  • 100k rare disease recruitment groups (top 30)
  • 100k cancer primary sites (top 30, recruited cancer participants)
  • NHS GMS referral clinical indications (top 30)
  • HPO terms from GMS observations and 100k rare disease phenotypes
  • Age distribution
Graphs examples

Source: Primary Data from GMCs and GLHs

In order to meaningfully aggregate between the 100kGP family group sizes and GMS referral group sizes, the actual sizes are used for this visualisation i.e. participants that are present in the cohorts (as opposed to reported/expected group sizes).

Source: Primary Data from GMCs, GLHs and Genomics England Bioinformatics Pipeline

Source: Primary Data from GMCs and GLHs

Source: Primary Data from GMCs and GLHs

Age is a calculated value and indicative only. As date of birth is not available in the Research Environment, age is calculated for each participant in Data Discovery as:

age = (Data Release date) - (01 Jan of birth year)