Author

Bianca Porneala

Massachusetts General HospitalORCID 0009-0001-5762-379XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:GWAS / association mapping· 3 Organism:human· 3 Approach:statistical model· 3 Assay:whole-genome sequencing· 3 Research Focus:fine-mapping· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Aaron LeongiD· 3 shared Alisa Knodle ManningiD· 3 shared Alicia Huerta‐ChagoyaiD· 2 shared Charles L KooperbergiD· 2 shared DANIEL A. DICORPOiD· 2 shared Heather M. HighlandiD· 2 shared James B. MeigsiD· 2 shared Joanne B. ColeiD· 2 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Aaron LeongORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineNature GeneticsPeer-reviewedOct 8, 2024

Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes

Alicia Huerta‐Chagoya, Philip H. Schroeder, Ravi Mandla…·Josep Maria Mercader

The paper conducts a large-scale rare variant GWAS meta-analysis of type 2 diabetes, identifying novel variants in monogenic diabetes genes and assessing their pathogenicity.

39 citationstop 1%

humanwhole-genome sequencing

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Genetic & Genomic MedicineDiabetologiaPeer-reviewedMay 6, 2023

The power of TOPMed imputation for the discovery of Latino enriched rare variants associated with type 2 diabetes

Alicia Huerta‐Chagoya, Philip H. Schroeder, Ravi Mandla…·Josep Maria Mercader

The paper demonstrates that TOPMed imputation improves the identification of rare variants associated with type 2 diabetes in Latino populations, leading to novel associations and better polygenic scores.

16 citations

humanwhole-exome sequencing

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GeneticsThe American Journal of Human GeneticsPeer-reviewedSep 26, 2019

Impact of rare and common genetic variants on diabetes diagnosis by hemoglobin A1c in multi-ancestry cohorts: The Trans-Omics for Precision Medicine Program.

Chloé Sarnowski, Aaron Leong, Laura M. Raffield…·James B. Meigs

The paper identifies genetic variants affecting HbA1c levels in multi-ancestry cohorts, showing ancestry-specific impacts on diabetes diagnosis via HbA1c.

60 citationstop 4%

humanwhole-genome sequencing

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