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CAUSES Study

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Genetics· 1

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

Frequent Co-Authors

Alison M. ElliottiD· 1 shared Anna LehmaniD· 1 shared Arezoo MohajeriiD· 1 shared Chenkai LiiD· 1 shared Christèle du Souich· 1 shared Clara van KarnebeekiD· 1 shared Colleen GuimondiD· 1 shared Egor DolzhenkoiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Alison M. ElliottORCID

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1 paper

Recent·Most cited

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

Indhu‐Shree Rajan‐Babu, Junran J. Peng, Readman Chiu, IMAGINE Study, Patricia H. Birch, Madeline Couse, Colleen Guimond, Anna Lehman, Jill C. Mwenifumbo, Clara van Karnebeek, Jan M. Friedman, CAUSES Study, Shelin Adam, Christèle du Souich, Alison M. Elliott, , 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.

Genome Medicine · Aug 9, 2021Peer-reviewedGenetics