Author

Beáta Dérfalvi

Dalhousie UniversityORCID 0000-0001-7272-7119Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Assay:electronic health records· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Adam S L GraefeiD· 1 shared Alexander BartschkeiD· 1 shared Alexander HoischeniD· 1 shared Alice Janssen· 1 shared Ana GrönkeiD· 1 shared Annet SimonsiD· 1 shared Anthony Vandersteen· 1 shared Caspar I. van der MadeiD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adam S L GraefeORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 9, 2025

Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability

Adam S L Graefe, Filip Rehburg, Samer Alkarkoukly…·Oya Beyan

RareLink enables interoperability between REDCap and global health standards by exporting data to Phenopackets and FHIR, improving rare disease research scalability and data reuse.

1 citation

humanelectronic health records

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Genetic & Genomic MedicinemedRxivPreprintJun 14, 2024

Clinical exome sequencing data from patients with inborn errors of immunity: cohort level meta-analysis and the benefit of systematic reanalysis

Emil E. Vorsteveld, Caspar I. van der Made, Sanne P. Smeekens…·Alexander Hoischen

This study reanalyzes exome sequencing data from 1,300 IEI patients, finding that systematic reanalysis increases the molecular diagnostic yield from 11.8% to 15.2%.

2 citations

humanwhole-exome sequencing

𝕏 PostBluesky