Author

Johnathan Bowes

Helix (United States)ORCID 0000-0003-1914-6993Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexandre BolzeiD· 1 shared Anthony D. SlonimiD· 1 shared Bruce Lipp· 1 shared Chris J. Rowan· 1 shared E Smith· 1 shared Elissa Levin· 1 shared Gai ElhananiD· 1 shared Harry Reed· 1 shared

Activity by Year

2019-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Alexandre BolzeORCID

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1 paper

Recent·Most cited

GeneticsbioRxivPreprintMay 27, 2019

Population Health Genetic Screening for Tier 1 Inherited Diseases in Northern Nevada: 90% of At-Risk Carriers are Missed

Joseph J. Grzymski, Gai Elhanan, E Smith…·James T. Lu

The paper finds that 90% of carriers of inherited disease variants are missed in current medical practice, highlighting the need for population-based genetic screening.

11 citations

humanwhole-exome sequencing

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