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Study Description

This study is part of the NHLBI Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Program. TOPMed is part of a broader Precision Medicine Initiative, which aims to provide disease treatments that are tailored to an individual's unique genes and environment. TOPMed will contribute to this initiative through the integration of whole-genome sequencing (WGS) and other -omics (e.g., metabolic profiles, protein and RNA expression patterns) data with molecular, behavioral, imaging, environmental, and clinical data. In doing so, this program aims to uncover factors that increase or decrease the risk of disease, to identify subtypes of disease, and to develop more targeted and personalized treatments. Two genotype call sets derived from WGS are now available, Freeze 8 (GRCh38) and Freeze 9b (GRCh38), with largely overlapping sample sets. Information about how to identify other TOPMed WGS accessions for cross-study analysis, as well as descriptions of TOPMed methods of data acquisition, data processing and quality control, are provided in the accompanying documents, "TOPMed Whole Genome Sequencing Project - Freeze 8, Phases 1-4" and "TOPMed Whole Genome Sequencing Project - Freeze 9b, Phases 1-4". Please check the study list at the top of each of these methods documents to determine whether it applies to this study accession.

This study involves sequencing of patients with a diagnosis of sickle cell disease from Brazil. No exclusionary criteria were employed and any eligible patients that consented to this study were recruited.

Authorized Access
Publicly Available Data
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Study Inclusion/Exclusion Criteria

All included patients had a diagnosis of sickle cell disease, including genotypes hemoglobin SS, SC, and S-beta thalassemia.

Study History

The cohort was collected in Pernambuco, Brazil or in collaborating centers.

Selected Publications
Diseases/Traits Related to Study (MeSH terms)
Authorized Data Access Requests
See research articles citing use of the data from this study
Study Attribution
  • Principal Investigator
    • Vijay Sankaran, MD, PhD. Boston Children's Hospital, Boston, MA, USA.