Author

Jamie C Fong

Broad InstituteORCID 0000-0003-3637-8526Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Amy L. McGuireiD· 1 shared Chad A. ShawiD· 1 shared Christiane StehmanniD· 1 shared Claudia Ponto· 1 shared Donna Marie MuznyiD· 1 shared Emily J. HilliD· 1 shared Emily Schulman· 1 shared Eric Vallabh MinikeliD· 1 shared

Activity by Year

2019-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Amy L. McGuireORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineNeurology GeneticsPeer-reviewedJun 20, 2022

Genome sequencing in the Parkinson disease clinic

Emily J. Hill, Laurie A. Robak, Rami Al‐Ouran…·Joshua M Shulman

This study performs genome sequencing in Parkinson's disease patients and finds genetic variants in 3.4% for LRRK2 and 10.1% for GBA, with 82% of patients willing to share variants with relatives.

18 citations

humanwhole-genome sequencing

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NeuroscienceNeurologyPeer-reviewedJun 6, 2019

Age of onset in genetic prion disease and the design of preventive clinical trials

Eric Vallabh Minikel, Sonia M. Vallabh, Margaret C. Orseth…·Simon Mead

This paper quantifies the challenges of designing preventive clinical trials for genetic prion disease due to high variability in age of onset, suggesting the need for biomarker-based trials.

104 citationstop 3%

humanstatistical model

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