Metadata Catalog
Natural History Data Resource

Working...

Study Detail

Study ID 1017
Name Boston Brazil SCD
Contact Email sankaran@broadinstitute.org
Acronym Boston Brazil SCD
Period 2011
Design Prospective Longitudinal Cohort
Study PI Vijay Sankaran
Institution Multiple institutes
URL https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001599.v1.p1
CTGovID NA
Funding Agency NHLBI-TOPMed
Grant Number 1R01DK103794-01,1U01HL117720-01
Overview This study is part of the NHLBI Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Program. This study involves sequencing of patients with a diagnosis of sickle cell disease from Brazil.
Focus Areas Whole Genome Sequencing
Outcomes The effect of SNPs on HbF levels and on pain crisis rate.
Data Location dbGaP, BioData Catalyst
Biospecimen Available Blood; DNA; Plasma; Serum;
Data Consent dbGaP
Biospecimen Consent dbGaP
Contact Consent dbGaP
Genomic Data Yes
Age Range 0-99
No. Participants 943
Inclusion Criteria All included patients had a diagnosis of sickle cell disease, including genotypes hemoglobin SS, SC, and S-beta thalassemia.
Exclusion Criteria
Study Documentation
  Select All 		TOPMed_dbGaP_Freeze8
Forms
  Select All

Back to Study List