Research Feasibility Form

Thank you for your interest in obtaining data from the NHLBI National Myelodysplastic Syndromes (MDS) Natural History Study. Complete and submit the online form below with your research request details and the DCC will be in contact over email regarding the next steps in the process.

Please contact if you have any questions.

I. Investigator Contact Information


II. Research Details

Brief description of proposed research including key research question(s) (1500 characters). If applicable, please specify MDS Inventory Browser Query ID.

Query Bookmarks

Copy and paste all applicable bookmark IDs you may have generated from the Inventory Browser which highlight your cohort of interest and display the availability of resources to support your research proposal (e.g., 66e1076b3fddafa94c2323ca5h323xx)

Do you have access or planning to use additional data or patients beyond the MDS study that would strengthen your ability to address your research questions?
If "Yes", please specify:


III. Data Request Details

   A. Study Population (check all that apply):


   B. Data / Outcomes Requested (check all that apply):


SNP/INDEL Variant Identification (96 Gene Targeted Exon Sequencing Panel)

Sample DNA from bone marrow samples collected from participants at baseline is hybridized with a custom xGen Predesigned Gene Capture Pool (IDT) that spans target regions across 96 genes (mds_gene_panel_annotations.csv [click here]). The sequencing is done using Illumina NovaSeq 6000 (Paired End 150bp) instrument targeting >600X mean depth for each sample. All sequencing runs were completed according to the manufacturer’s recommendations (Illumina Inc, San Diego, CA).

Variants in the 96 gene panel are initially assigned programmatically as "Confidence Level 2 (Programmatic Curated: White Lists & Customized Rules)" or "Confidence Level 3 (Programmatic Curated: Rare Missense)". Variants belonging to genes that were manually curated (53 total noted below except for those in the non-manually curated group) go through a separate manual review conducted by a study review team to determine if variants have enough support be reassigned to the "Confidence level 1 (Manually Curated)" variant confidence level. Confidence Level 1 are considered likely disease-causing variants (somatic and germline) based on the study team's review.

Variant Allele Frequency (VAF):
Allele Depth:
Variant Consequence:
Other study population characteristics or outcomes of interest not otherwise specified (e.g., demographic groups, comorbidities, etc.) (250 characters):


   C. Requested Specimens (check all that apply):

Other study specimen types or specimen sources of interest not otherwise specified (250 characters):