Author

Alison M. Elliott

University of British ColumbiaORCID 0000-0002-9896-1314Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Anna LehmaniD· 1 shared Arezoo MohajeriiD· 1 shared Bhavi P. ModiiD· 1 shared CAUSES Study· 1 shared Chenkai LiiD· 1 shared Christèle du Souich· 1 shared Clara van KarnebeekiD· 1 shared Colleen GuimondiD· 1 shared

Activity by Year

2020-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetics

Anna LehmanORCID

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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

𝕏 PostBluesky

GenomicsHuman MutationPeer-reviewedDec 25, 2020

GeneBreaker: Variant simulation to improve the diagnosis of Mendelian rare genetic diseases

Phillip A. Richmond, Tamar V. Av‐Shalom, Oriol Fornés…·Wyeth W. Wasserman

GeneBreaker simulates rare genetic disease cases to benchmark variant calling and prioritization tools, aiding in the diagnosis of Mendelian disorders.

3 citations

whole-genome sequencingsimulation

𝕏 PostBluesky