Author

Evelyn Harper

Massachusetts Eye and Ear Infirmary

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

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:DNA methylation· 1 Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Broad CMG· 1 shared Emily PlaceiD· 1 shared Eric A. PierceiD· 1 shared Hilary A. ScottiD· 1 shared Jason ComanderiD· 1 shared Kinga M. BujakowskaiD· 1 shared Rachel M. HuckfeldtiD· 1 shared Sudeep MehrotraiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

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8 top collaborators · 28 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

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1 paper

Recent·Most cited

A high throughput splicing assay to investigate the effect of variants of unknown significance on exon inclusion

Hilary A. Scott, Emily Place, Evelyn Harper, Sudeep Mehrotra, Broad CMG, Rachel M. Huckfeldt, Jason Comander, Eric A. Pierce, Kinga M. Bujakowska

The paper develops a high throughput splicing assay (HTSA) to assess the impact of variants of unknown significance on exon inclusion, identifying 47 variants that significantly reduce exon recognition.

medRxiv · Nov 30, 2022 · PreprintGenetic & Genomic Medicine