Author

Helen Castillo-Madeen

Oregon National Primate Research Center

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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Genetics· 1

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Research Focus:benchmarking· 1 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

Anaı̈s BaudotiD· 1 shared Anne‐Louise LeuteneggeriD· 1 shared Chaker AlouiiD· 1 shared Daniel P. LewinsohniD· 1 shared Donald F. ConradiD· 1 shared Elisabeth Tournier‐LasserveiD· 1 shared Emmanuelle GéniniD· 1 shared Gaëlle MarenneiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

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1 paper

Recent·Most cited

PSAP-genomic-regions: a method leveraging population data to prioritize coding and non-coding variants in whole genome sequencing for rare disease diagnosis

Marie‐Sophie C. Ogloblinsky, Ozvan Bocher, Chaker Aloui, Anne‐Louise Leutenegger, Ozan Özışık, Anaı̈s Baudot, Elisabeth Tournier‐Lasserve, Helen Castillo-Madeen, Daniel P. Lewinsohn, Donald F. Conrad, Emmanuelle Génin, Gaëlle Marenne

PSAP-genomic-regions improves variant prioritization in whole genome sequencing by incorporating functional genomic regions, enhancing detection of both coding and non-coding pathogenic variants in rare disease diagnosis.

Genetic Epidemiology · Sep 24, 2024Peer-reviewedGenetics