Author

Conor Nodzak

University of North Carolina at Charlotte

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Bioinformatics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:machine learning (classical)· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Xinghua Mindy ShiiD· 2 shared Aaron M. WengeriD· 1 shared Adrian M. StütziD· 1 shared Alex R. HastieiD· 1 shared Ali BashiriD· 1 shared Alistair N. Ward· 1 shared Amina NooriD· 1 shared Andrew FarrelliD· 1 shared

Activity by Year

2019-2019 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenomics

Xinghua Mindy ShiORCID

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2 papers

Recent·Most cited

GenomicsNature CommunicationsPeer-reviewedApr 16, 2019

Multi-platform discovery of haplotype-resolved structural variation in human genomes

Mark Chaisson, Ashley D. Sanders, Xuefang Zhao…·Charles Lee

This study identifies a large number of structural variants in human genomes using multiple sequencing technologies and presents them as a gold standard for future studies.

889 citationstop 1%

humanwhole-genome sequencing

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BioinformaticsbioRxivPreprintApr 5, 2019

Prediction of the Effect of Naturally Occurring Missense Mutations on Cellular N-Acetyl-Glucosaminidase Enzymatic Activity

Colby T. Ford, Aneeta Uppal, Conor Nodzak, Xinghua Mindy Shi

The paper predicts the effect of NAGLU missense mutations on enzymatic activity using machine learning and PolyPhen-2 scores, finding they are good predictors of functionality.

1 citation

humanwhole-exome sequencing

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