Frequently Asked Questions

Membership in the TOPMed program requires nomination and sponsorship from an existing TOPMed Center or Project PI. In addition to applying for access to released TOPMed data, as all scientific community members may, TOPMed members may also apply for pre-release TOPMed data that is available on dbGaP Exchange Areas. For TOPMed members, use of data accessed by either mechanism is subject to TOPMed data sharing and publications policies.

To become a member and to gain access to the TOPMed website, you must be affiliated with one of the consortium entities. TOPMed affiliated investigators can only access private pages of this website by completing the "Create a New user Account" form, and having a TOPMed PI from a TOPMed Project, TOPMed Center, U01 or R01; Award (in response to TOPMed RFAs), or NIH-sponsored investigator-initiated award centered on TOPMed data review and approve the new user account request.

Once we have received PI approval, you will receive an automated email with additional steps to set up your account. You will be asked to sign a TOPMed NDA.

TOPMed data are made available to the scientific community via the database for genotypes and phenotypes (dbGaP), in study-specific and parent-study accessions. These accessions can be identified by searching the dbGaP website for "TOPMed". Different types of data are organized within accessions as phenotypes, genotypes, genotypes (WGS), and Non-WGS Omics. To learn more, please visit: Data Access: Where are the data?

Sequencing and data processing methods are available for each data freeze. Data freezes occur at periodic intervals, and data are available via controlled access on dbGaP.To learn more about the methods, please visit: Methods

Study phenotypes were harmonized by the TOPMed Data Coordinating Center (DCC) via the Phenotype Harmonization Project and the Phenotype Tagging Project. The DCC has harmonized over 100 phenotype variables and has tagged over 16,000 dbGaP study variables with 65 phenotype concepts related to heart, lung, blood, and sleep domains. To learn more, please visit: Harmonized Phenotypes

TOPMed membership is not required to access released TOPMed data. Released TOPMed data are made available to the scientific community in multiple venues; publicly-available resources include the BRAVO variant server and the TOPMed imputation server powered by BioData Catalyst. Anyone within the scientific community may also apply for access to released TOPMed data through the database for genotypes and phenotypes (dbGaP).

Applications to access pre-release TOPMed data within the Exchange Areas of dbGaP may only be completed by TOPMed members that have been named as an eligible applicant.

Please see FAQs "How does one become a member of TOPMed or obtain TOPMed website access?" and "What is the TOPMed dbGaP Exchange Area?".

For current TOPMed members with website login access, the first step to obtaining access to pre-release TOPMed data within the Exchange Areas is to review the prerequisites for initiating an application for TOPMed Exchange Area data(internal link) and verify that you (or your supervisor or team member at your institution) appear on the list of eligible applicants (internal link) for the TOPMed Exchange Areas.

Once the prerequisites for initiating an application have been met, the eligible applicant can follow the instructions to submit a dbGaP application for TOPMed Exchange Area data (internal link).

The Exchange Area is a dbGaP space which houses internal interim TOPMed data. Access is controlled via a dbGaP application that is reviewed by the NHLBI Data Access Committee (DAC). The process is expedited for TOPMed, provided the step-by-step ‘Instructions for Online Data Access Request (DAR) for TOPMed dbGaP Exchange Areas’ are followed exactly. Note that only TOPMed members may apply for access to data within the Exchange area; please see FAQ "How does one become a member of TOPMed or obtain TOPMed website access?"

The Exchange Area contains pre-release data (e.g. pre-QC or interim data), which can be different from regular dbGaP release data (post-QC). Both pre-release and released dbGaP data are under controlled access and require approved dbGaP DARs, but pre-release also requires the applicant to be on the TOPMed list of eligible applicants.

The TOPMed Exchange Areas contain:

• TOPMed WGS genotypes (IRC-generated VCF freezes)
• Pointers to CRAMs and read alignment data housed in NHLBI cloud bucket
• Phenotypes
  • TOPMed DCC-led harmonized phenotypes (with study and WG input)
  • TOPMed Working Group-led harmonized phenotypes (with study input)
  • Standard dbGaP phenotype submissions(if not previously deposited in a prior/parent dbGaP study accession)