Author

Adam Pullen

Illumina (United Kingdom)

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

Frequent Co-Authors

Aimee D. C. PaulusseniD· 1 shared Alejandra Gutierrez· 1 shared Alexander P.A. StegmanniD· 1 shared Amber den OudeniD· 1 shared Arthur van den Wijngaard· 1 shared Christian GilisseniD· 1 shared Debby M.E.I. HellebrekersiD· 1 shared Dorien LugtenbergiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aimee D. C. PaulussenORCID

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1 paper

Recent·Most cited

Genome sequencing as a generic diagnostic strategy for rare disease

Gaby Schobers, Ronny C. Derks, Amber den Ouden, Hilde L. Swinkels, Jeroen van Reeuwijk, Ermanno Bosgoed, Dorien Lugtenberg, Su Ming Sun, Jordi Corominas, Marjan M. Weiss, Marinus J. Blok, Richelle A. C. M. Olde Keizer, Tom G. J. Hofste, Debby M.E.I. Hellebrekers, Nicole de Leeuw, , Lisenka E.L.M. Vissers

This study evaluates genome sequencing as a primary diagnostic tool for rare diseases, finding it can detect 95% of clinically relevant variants with a 0.3% false negative rate.

medRxiv · Sep 28, 2023 · PreprintGenetic & Genomic Medicine