NHLBI TOPMed: Omics Phenotypes of Heart, Lung, and Blood Disorders (X01)

FAQs: Frequently Asked Questions


This Funding Opportunity Announcement (FOA) invites applications for access to NIH-funded capacity for genome-wide high throughput assays and other omics platforms for investigators wishing to study the genetic basis and omics signatures of common, complex heart, lung, and blood disorders. Successful applicants will provide biospecimens and receive whole genome sequence or other omics data. No funding will be provided for specimen preparation or data analysis. Successful applicants will also be required to deposit phenotypic data associated with their biospecimens in a public database such as dbGaP.

Please re-check this page periodically, as new questions and answers will continue to be added as applicable.

Omics Questions for the X01 FAQ

  1. Can I propose a large scale whole genome sequencing project to TOPMed?
    After funding whole genome sequencing of 200,000 DNA samples, TOPMed has covered many major heart, lung, blood, diseases and sleep disorders. Applicants interested in WGS projects should check existing studies in TOPMed website (https://topmed.nhlbi.nih.gov/) and talk to NHLBI staff about the novelty and feasibility of their applications prior to submission.
  2. Can I propose trans-omics (transcriptome, methylome, proteome, and metabolome) measurements on thousands of subjects?
    Applicants need to provide strong rationale for why each omics-measurement is needed to answer their specific scientific questions relevant to NHLBI’s mission and how the sample size is calculated to meet the need and value to existing TOPMed data resource (https://topmed.nhlbi.nih.gov/). Applicants are strongly encouraged to discuss the feasibility of their applications with NHLBI staff.
  3. Can I just propose other omics without WGS data in my application?
    In general, we will provide omics measurements only on samples that have or will have WGS data. Please contact NHLBI staff if you have a special case for consideration.
  4. What are the omics that can currently be requested by X01 Investigators?
    They are Whole Genome Sequencing (WGS), Epigenetics (methylation), RNA-seq, Metabolomics, and/or Proteomics. The single-cell omics technology will be introduced in the near future.
  5. Are there any requirements for previous omics being included for an application?
    No, but the applicant should note previous technologies that could indicate sample quality, e.g. array based genotyping or Whole Exome Sequencing to indicate DNA quality, etc.
  6. Is there a minimal requirement for prior omics analysis?
    No. However, if the application includes WGS or other omics data generated elsewhere, investigators may need to address whether the existing data can be part of TOPMed in terms of data sharing, quality, and formats.
  7. What are the sample amounts for each current omic platform (new platforms may be introduced in the near future)?
    • WGS, 500 ng DNA for 20-30X coverage – PCR free preferred unless there is a specific reason for its use, such as stem cell investigations
    • Epigenetics (Infinium® MethylationEPIC 850K BeadChip.) – 1,000 ng of genomic DNA for bisulfite array profiling
    • RNA-seq (45 million reads, 101 bp) – 1,000 ng RNA, RIN Score of 7 or better, indicate isolation method (including use of PAXGENE tubes if available) and sample source (e.g. whole blood, tissue, etc.)
    • Metabolomics (mass spectrometry) – 200 microliters. EDTA plasma is recommended. Applicants should provide a list of specific metabolites that would be required for their analysis.
    • Proteomics (Olink) – 200 microliters. EDTA plasma is recommended.
  8. Where will the assays be performed?
    Details about the data generation centers will be provided after awards are made. A list of previously awarded centers can be founded at TOPMed website (https://topmed.nhlbi.nih.gov/group/sequencing-centers).
  9. What level of quality control will be done and where/who will do that?
    Details about the quality control will be provided after data generation centers are announced.
  10. Is it possible to communicate with the centers that will be performing the assays and QC so we can include that information in the X01 application in order to provide a compelling scenario for our later request for data analysis funds?
    No, as contracted vendors have not yet been selected for this round of omics.
  11. When will data generated be shared with the scientific community?
    All cleaned omics data will be made available to the scientific community. The data cleaning process may take about 6 months after the data become available.
  12. Can investigators include requests for X01 “awards” in their R01 applications?
    No. To access TOPMed’s sequencing capacity, separate X01 applications are required. If their X01 applications are selected, investigators can reference the X01 approval in their other grant applications. Investigators must inform the NHLBI if another source has subsequently funded or is likely to fund the studies proposed in their X01 application.
  13. Can investigators reference the data of other existing or on-going TOPMed projects as part of their X01 applications in order to increase the sample size for data analysis?
    Yes. NHLBI strongly encourages applicants to leverage existing TOPMed data in their research. Study descriptions can be obtained at https://topmed.nhlbi.nih.gov/ . All TOPMed data will be made available to the scientific community through the database of Genotypes and Phenotypes (dbGaP), BioData Catalyst(BDC), or an approved NIH data warehouse.
  14. So if there are no funds available for the institution, then what does go into the budget forms?
    Award Budget- Not applicable. Funds are not awarded via this X01 resource access award. For Total Federal Funds Requested: Enter $0. Total Federal & Non-Federal Funds: $0.