Author

Detlef Trost

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· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aïcha BoughalemiD· 2 shared Abdoulaye Diallo· 1 shared Alexander HoischeniD· 1 shared Anne-Laure Bougé· 1 shared Armelle Luscan· 1 shared Bart P. G. H. van der SandeniD· 1 shared David GenevièveiD· 1 shared Denis Bertrand· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Aïcha BoughalemORCID

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2 papers

Recent·Most cited

Systematic assessment of rare and de novo structural variants in 57 patient-parent trios using optical genome mapping

Bart P. G. H. van der Sanden, Sandra Vorimo, Theresa Brunet, Aïcha Boughalem, Maureen Jacob, Ronald van Beek, Eveline J. Kamping, Elisa Rahikkala, Outi Kuismin, Jukka Moilanen, Katri Pylkäs, Elisabeth Graf, Sandy Lösecke, Melanie Brügger, Kevork Derderian, , Alexander Hoischen

This study uses optical genome mapping to identify de novo and rare inherited structural variants in 57 patient-parent trios, finding 13 de novo SVs and 11 rare inherited SVs, some of which are pathogenic or candidate disease-causing.

medRxiv · Jan 21, 2026 · PreprintGenetic & Genomic Medicine

Genome Alert!: a standardized procedure for genomic variant reinterpretation and automated genotype-phenotype reassessment in clinical routine

Kévin Yauy, François Lecoquierre, Stéphanie Baert‐Desurmont, Detlef Trost, Aïcha Boughalem, Armelle Luscan, Jean‐Marc Costa, Vanna Géromel, Laure Raymond, Pascale Richard, Sophie Coutant, Mélanie Broutin, Raphaël Lanos, Quentin Fort, Stenzel Cackowski, , Nicolas Philippe

Genome Alert! automatically detects changes in variant classifications and gene-disease associations over time, improving clinical interpretation of genomic data with minimal human effort.

Genetics in Medicine · Mar 17, 2022Peer-reviewedGenetic & Genomic Medicine