Author

Curt Scharfe

Yale UniversityORCID 0000-0001-6322-2039Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:fine-mapping· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Acadia A. KocheriD· 1 shared Andrew Thomas DeWaniD· 1 shared Anna Rychkova· 1 shared Arya ManiiD· 1 shared Carlos D. BustamanteiD· 1 shared Carlos E. MillaiD· 1 shared Cassius Iyad Ochoa ChaariD· 1 shared Dana AlameddineiD· 1 shared

Activity by Year

2017-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 14 mutual co-author links

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1 shared paperGenomics

Acadia A. KocherORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineJournal of Cardiovascular Translational ResearchPeer-reviewedFeb 5, 2026

PAD-associated genetic variants are more strongly associated with surgical intervention than premature onset

Jiaqi Hu, Dana Alameddine, He Wang…·Andrew Thomas DeWan

This study identifies PAD-associated SNPs with stronger associations with surgical intervention than premature onset using UK Biobank data.

DOI 10.1007/s12265-025-10737-5

humanGWAS summary statistics

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GenomicsProceedings of the National Academy of SciencesPeer-reviewedDec 28, 2020

Massively parallel discovery of human-specific substitutions that alter neurodevelopmental enhancer activity

Severin Uebbing, Jake Gockley, Steven K. Reilly…·James P. Noonan

The paper identifies human-specific substitutions affecting enhancer activity in neurodevelopmental regions by testing their impact in human neural stem cells.

114 citationstop 3%

humanDNA methylation

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BioinformaticsbioRxivPreprintMar 10, 2017

DEVELOPING GENE-SPECIFIC META-PREDICTOR OF VARIANT PATHOGENICITY

Anna Rychkova, MyMy C. Buu, Curt Scharfe…·Carlos D. Bustamante

The paper develops a gene-specific meta-predictor for variant pathogenicity using a Random Forest model trained on the CFTR gene and evaluates its performance against existing tools.

2 citations

humanwhole-exome sequencing

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