Projects by Researcher

Scientific Questions Being Studied

Research questions:

1) Can our novel ABO blood typing algorithm using genetic data be used effectively to extensively type ABO subtypes from whole genome sequencing and array data in a diverse cohort?
2) Will a SNP approach for ABO blood typing be concordant with available serotype?
3) What disease association ABO blood types can be replicated using the AllofUs dataset?
4) What novel disease associations, if any, with ABO blood types can be identified in a diverse cohort?

Relevance: Genomic variation in RBC and antigens is associated with a myriad of conditions. The ABO locus alone is associated with many conditions including venous thromboembolism (VTE), pancreatic cancer, malaria, and COVID-19. Furthermore, it is not common practice to extensively type beyond the traditional ABO blood groups, and the studies that do so are primarily done in individuals of European ancestry. Thus, we seek to do the first PheWAS on extensively typed RBC antigens and to do so in a diverse cohort.

Scientific Questions Being Studied

Research questions:

1) Can our novel ABO blood typing algorithm using genetic data be used effectively to extensively type ABO subtypes from whole genome sequencing and array data in a diverse cohort?
2) Will a SNP approach for ABO blood typing be concordant with available serotype?
3) What disease association ABO blood types can be replicated using the AllofUs dataset?
4) What novel disease associations, if any, with ABO blood types can be identified in a diverse cohort?

Relevance: Genomic variation in RBC and antigens is associated with a myriad of conditions. The ABO locus alone is associated with many conditions including venous thromboembolism (VTE), pancreatic cancer, malaria, and COVID-19. Furthermore, it is not common practice to extensively type beyond the traditional ABO blood groups, and the studies that do so are primarily done in individuals of European ancestry. Thus, we seek to do the first PheWAS on extensively typed RBC antigens and to do so in a diverse cohort.

Scientific Questions Being Studied

Research questions:

1) Is there a correlation between global and local ancestry in pharmacogenomic (PGx) variants?
2) What novel PGx variants, if any, with pharmacogenomic traits can be identified in a diverse cohort using a GWAS approach and adjusting for local ancestry?

Relevance: While some studies have moved beyond race-based research in relation to pharmacogenomic (PGx) traits and have instead considered global ancestry, such studies rarely consider the influence of local ancestry (LA). Adding LA estimates into association analyses will provide a more comprehensive and inclusive approach to adjusting for population stratification and allow for research to better utilize diverse and admixed cohorts. Thus, we seek to focus our efforts on identifying novel PGx variants in relation to pharmacogenomic traits in a diverse cohort that includes admixed populations by incorporating local ancestry into association analyses in an effort to reduce adverse pharmacogenomic outcomes.

Scientific Questions Being Studied

Research questions: Can we identify novel genomic associations with heparin-induced thrombocytopenia (HIT).
Relevance: Heparin is a widely used anticoagulant that carries the risk of an antibody-mediated adverse drug reaction referred to as heparin-induced thrombocytopenia (HIT). A subset of heparin-treated patients produces detectable levels of antibodies against complexes of heparin bound to circulating platelet factor 4 (PF4). We aim to identify genetic variants associated with HIT using a genome-wise association study (GWAS) approach.

Scientific Questions Being Studied

Research questions:

1) What disease associations with HLA can be replicated using the AllofUs dataset?
2) What novel disease associations with HLA can be identified using the AllofUs dataset?

Relevance: The human leukocyte antigen (HLA) system is the most polymorphic in the human genome that has been associated with protection and predisposition to a broad array of infectious, autoimmune, and malignant diseases. Further research needs to be done in diverse populations to identify the full scope of phenotypes potentially associated with the HLA system.