Author

Charles A. LeDuc

Columbia UniversityORCID 0000-0002-2073-5050Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:GWAS / association mapping· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Wendy K. ChungiD· 2 shared Amit JainiD· 1 shared Blandine LaferrèreiD· 1 shared Brandi N. Davis‐DusenberyiD· 1 shared Bruce D. GelbiD· 1 shared Christine E. SeidmaniD· 1 shared Claudia A. DoegeiD· 1 shared Deniz TurgutiD· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersBioinformatics

Wendy K. ChungORCID

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2 papers

Recent·Most cited

BioinformaticsbioRxivPreprintMar 8, 2024

Automated Identification of Germline de novo Mutations in Family Trios: A Consensus-Based Informatic Approach

Mariya Shadrina, Özem Kalay, Sinem Demirkaya-Budak…·Bruce D. Gelb

This paper presents an informatic method to identify germline de novo mutations in family trios using consensus across variant callers, achieving high precision and recall.

2 citations

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintFeb 19, 2023

Predicted loss of function alleles in Bassoon (BSN) are associated with obesity

Na Zhu, Charles A. LeDuc, Ilene Fennoy…·Rudolph L. Leibel

The paper identifies rare heterozygous predicted loss of function variants in BSN associated with higher BMI in multiple cohorts.

DOI 10.1101/2023.02.19.23285978

humanwhole-exome sequencing

𝕏 PostBluesky