Author

F Boardman-Pretty

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· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

A Rendon· 1 shared A Stuckey· 1 shared Adam P GiessiD· 1 shared Afshan SiddiqiD· 1 shared Alexander SieghartiD· 1 shared Alona SosinskyiD· 1 shared Amy Webb· 1 shared Ana Lisa Taylor TavaresiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

A Rendon

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1 paper

Recent·Most cited

Targeting de novo loss of function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project

Eleanor G. Seaby, Neil Thomas, Amy Webb, Helen K. Brittain, Ana Lisa Taylor Tavares, John C. Ambrose, Prabhu Arumugam, Roel P. J. Bevers, Marta Bleda, F Boardman-Pretty, Christopher R. Boustred, Mark J. Caulfield, G. C. Chan, Tom Fowler, Adam P Giess, , Sarah Ennis

The paper introduces DeNovoLOEUF, a method to identify diagnostic variants in genome sequencing data, achieving 96% positive predictive value and uncovering 39 missed diagnoses in the 100,000 Genomes Project.

Human Genetics · Dec 7, 2022Peer-reviewedGenetic & Genomic Medicine