Author

Celso Arango López

Broad Institute

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Adam FrankishiD· 1 shared Adolfo CorreaiD· 1 shared Aiden Peter CorviniD· 1 shared Amina A AbubakariD· 1 shared André FrankeiD· 1 shared Benjamin GläseriD· 1 shared Beryl B. CummingsiD· 1 shared Bruce M. CoheniD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Adam FrankishORCID

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1 paper

Recent·Most cited

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

Sanna Gudmundsson, Moriel Singer‐Berk, Sarah L. Stenton, Julia K. Goodrich, Michael W. Wilson, Jonah E. Einson, Nicholas A. Watts, Maria Teresa Abreu, Amina A Abubakar, Rolf Adolfsson, Carlos Alberto Aguilar-Salinas, Tariq Ahmad, Christine M. Albert, Jessica Alföldi, Matthieu Allez, , Fernando S. Goes

The paper analyzes over 800,000 human genomes to assess penetrance of clinically relevant variants, finding that 95% of pLoF variants in severe diseases have explanations for lack of disease manifestation.

Nature Communications · Oct 31, 2025Peer-reviewedGenomics