Author

Jacqueline B. Hetmanski

Johns Hopkins UniversityORCID 0000-0003-3876-0518Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Jeffrey Clark MurrayiD· 3 shared Margaret A. TaubiD· 3 shared Mary L. MarazitaiD· 3 shared Terri H. BeatyiD· 3 shared Eleanor FeingoldiD· 2 shared Elizabeth J. LeslieiD· 2 shared George L. WehbyiD· 2 shared Ingo RuczinskiiD· 2 shared

Activity by Year

2018-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Jeffrey Clark MurrayORCID

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3 papers

Recent·Most cited

GeneticsbioRxivPreprintApr 1, 2020

Coding de novo mutations identified by WGS reveal novel orofacial cleft genes

Madison R. Bishop, Kimberly K. Diaz Perez, Miranda R. Sun…·Elizabeth J. Leslie

The paper identifies coding de novo mutations in whole-genome sequencing data from OFC cases and finds enrichment in genes expressed in craniofacial tissues and linked to OFC syndromes.

DOI 10.1101/2020.04.01.019927

humanwhole-genome sequencing

𝕏 PostBluesky

GeneticsHuman GeneticsPeer-reviewedDec 17, 2019

Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21

Nandita Mukhopadhyay, Madison R. Bishop, Michael Mortillo…·Mary L. Marazita

This study uses whole genome sequencing of OFC trios to identify a new locus on chromosome 21 associated with OFCs in Colombian families.

47 citations

humanwhole-genome sequencing

𝕏 PostBluesky

GeneticsGenetic EpidemiologyPeer-reviewedSep 24, 2018

Inferring Disease Risk Genes from Sequencing Data in Multiplex Pedigrees Through Sharing of Rare Variants

Alexandre Bureau, Ferdouse Begum, Margaret A. Taub…·Ingo Ruczinski

This paper extends the Rare Variant Sharing method to handle partial variant sharing in multiplex pedigrees, showing improved power over existing methods in simulations and real data.

8 citations

humanwhole-exome sequencing

𝕏 PostBluesky