Author

Broad CMG

Broad Institute

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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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:variant effect prediction· 2 Assay:DNA methylation· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Emily PlaceiD· 2 shared Eric A. PierceiD· 2 shared Kinga M. BujakowskaiD· 2 shared Andrew J. CatomerisiD· 1 shared Brian S. ColeiD· 1 shared Charles Ferguson· 1 shared Eglė GaldikaitėiD· 1 shared Eleina M. England· 1 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Emily PlaceORCID

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2 papers

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

The Importance of Automation in Genetic Diagnosis: Lessons from Analyzing an Inherited Retinal Degeneration Cohort with the Mendelian Analysis Toolkit (MATK)

Erin Zampaglione, Matthew Maher, Emily Place, Naomi E. Wagner, Stephanie P. DiTroia, Katherine R. Chao, Eleina M. England, Broad CMG, Andrew J. Catomeris, Sherwin Nassiri, Seraphim Himes, Joey Pagliarulo, Charles Ferguson, Eglė Galdikaitė, Brian S. Cole, , Kinga M. Bujakowska

The paper introduces MATK, an automated variant ranking tool for Mendelian disease diagnosis, showing it identifies most expert solutions and finds additional variants in unsolved cases.

Genetics in Medicine · Nov 30, 2021Peer-reviewedGenetic & Genomic Medicine