Author

Tanya N. Nelson

University of British ColumbiaORCID 0000-0001-5344-3516Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Clara van KarnebeekiD· 2 shared Shelin AdamiD· 2 shared Alison M. ElliottiD· 1 shared Anita DattaiD· 1 shared Anna LehmaniD· 1 shared Arezoo MohajeriiD· 1 shared Aspasia Michoulas· 1 shared Bruce BjörnsoniD· 1 shared

Activity by Year

2019-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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2 shared papersGenetics

Clara van KarnebeekORCID

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2 papers

Recent·Most cited

GeneticsGenome MedicinePeer-reviewedAug 9, 2021

Genome-Wide Sequencing as a First-Tier Screening Test for Short Tandem Repeat Expansions

Indhu‐Shree Rajan‐Babu, Junran J. Peng, Readman Chiu…·İnanç Birol

The paper evaluates STR detection tools and develops a pipeline to identify pathogenic expansions in exome/genome data, finding 27 samples with STR mutations in 306 families.

54 citationstop 5%

humanwhole-exome sequencing

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GeneticsFrontiers in NeurologyPeer-reviewedMay 21, 2019

Diagnostic Yield And Treatment Impact Of Targeted Exome Sequencing In Early-Onset Epilepsy

Michelle K. Demos, Ilaria Guella, C DeGuzman…·Matthew James Farrer

This study evaluates the diagnostic yield and treatment impact of targeted whole-exome sequencing in early-onset epilepsy, finding a 34% diagnostic rate with faster diagnosis and cost savings when used early.

100 citationstop 1%

humanwhole-exome sequencing

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