Author

Claude Houdayer

InsermORCID 0000-0002-5190-0389Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:DNA methylation· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1

Frequent Co-Authors

Alexandra MartinsiD· 2 shared Raphaël LemaniD· 2 shared Akash Kamandula· 1 shared Álvaro N.A. MonteiroiD· 1 shared Amanda B. SpurdleiD· 1 shared Amanda Ewart TolandiD· 1 shared Amanda M. WilliamsiD· 1 shared Andrew G. L. DouglasiD· 1 shared

Activity by Year

2019-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alexandra MartinsORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedAug 13, 2024

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson…·Amanda B. Spurdle

The paper refines ACMG/AMP variant classification criteria for BRCA1 and BRCA2 by calibrating evidence strength and improving classification consistency through expert panel review.

104 citationstop 1%

humanDNA methylation

𝕏 PostBluesky

BioinformaticsHuman GeneticsPeer-reviewedJan 3, 2024

Predicting the impact of rare variants on RNA splicing in CAGI6

Jenny Lord, Carolina Jaramillo Oquendo, Htoo A. Wai…·Diana Baralle

The paper evaluates splicing prediction methods on 56 clinically validated variants, finding some methods match or exceed SpliceAI's performance but highlighting ongoing challenges in accuracy.

11 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsHuman MutationPeer-reviewedMay 27, 2019

First estimation of the scale of canonical 5’ splice site GT>GC mutations generating wild-type transcripts and their medical genetic implications

Jin‐Huan Lin, Xin‐Ying Tang, Arnaud Boulling…·Jian‐Min Chen

The paper estimates that 15-18% of canonical GT 5' splice sites can generate wild-type transcripts when mutated to GC, with implications for disease and splicing mechanisms.

46 citations

humanDNA methylation

𝕏 PostBluesky

Biology Disciplines

Signature Assays, Organisms & Methods

Frequent Co-Authors

Activity by Year

Co-Author Collaboration Network

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

Predicting the impact of rare variants on RNA splicing in CAGI6

First estimation of the scale of canonical 5’ splice site GT&gt;GC mutations generating wild-type transcripts and their medical genetic implications

First estimation of the scale of canonical 5’ splice site GT>GC mutations generating wild-type transcripts and their medical genetic implications