Author

Charlotte M. Nguyen

University of Toronto

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 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Brett TrostiD· 2 shared Egor DolzhenkoiD· 2 shared Michael A. EberleiD· 2 shared Ryan K. C. YueniD· 2 shared Stephen W. SchereriD· 2 shared Alicia SemakaiD· 1 shared Andrew M. GrossiD· 1 shared Britt I. DrögemölleriD· 1 shared

Activity by Year

2019-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersBioinformatics

Brett TrostORCID

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2 papers

Recent·Most cited

BioinformaticsGenome biologyPeer-reviewedApr 28, 2020

ExpansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data

Egor Dolzhenko, Mark F. Bennett, Phillip A. Richmond…·Michael A. Eberle

ExpansionHunter Denovo detects known and novel repeat expansions in short-read sequencing data without requiring predefined repeat catalogs.

201 citationstop 1%

whole-genome sequencingexperimental assay

𝕏 PostBluesky

GeneticsThe American Journal of Human GeneticsPeer-reviewedMay 16, 2019

Length of uninterrupted CAG repeats, independent of polyglutamine size, results in increased somatic instability and hastened age of onset in Huntington disease

Galen E.B. Wright, Jennifer A. Collins, Chris Kay…·Michael R. Hayden

This study identifies a genetic variant that reduces interruption between CAG and CCG repeats in the HTT gene, leading to earlier onset of Huntington disease and increased somatic instability.

201 citationstop 1%

humanDNA methylation

𝕏 PostBluesky