Author

Aïcha Boughalem

ORCID 0000-0002-3937-5040Unclaimed 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: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

Detlef Trost· 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

Detlef Trost

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJan 21, 2026

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…·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.

DOI 10.64898/2026.01.16.26344264

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMar 17, 2022

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

Kévin Yauy, François Lecoquierre, Stéphanie Baert‐Desurmont…·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.

11 citations

humanwhole-exome sequencing

𝕏 PostBluesky