Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

doi:10.1093/nar/gky372

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Article

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Nucleic acids research - 6 Sept 2018

Leman Raphaël, Gaildrat Pascaline, Le Gac Gérald, Ka Chandran, Fichou Yann, Audrezet Marie-Pierre, Caux-Moncoutier Virginie, Caputo Sandrine M, Boutry-Kryza Nadia, Léone Mélanie, Mazoyer Sylvie, Bonnet-Dorion Françoise, Sevenet Nicolas, Guillaud-Bataille Marine, Rouleau Etienne, Bressac-de Paillerets Brigitte, Wappenschmidt Barbara, Rossing Maria, Muller Danielle, Bourdon Violaine, Revillon Françoise, Parsons Michael T, Rousselin Antoine, Davy Grégoire, Castelain Gaia, Castéra Laurent, Sokolowska Joanna, Coulet Florence, Delnatte Capucine, Férec Claude, Spurdle Amanda B, Martins Alexandra, Krieger Sophie, Houdayer Claude

Abstract excerpt

Variant interpretation is the key issue in molecular diagnosis. Spliceogenic variants exemplify this issue as each nucleotide variant can be deleterious via disruption or creation of splice site consensus sequences. Consequently, reliable in silico prediction of variant spliceogenicity would be a major improvement. Thanks to an international effort, a set of 395 variants studied at the mRNA level and occurring in...

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PMID: 29750258
DOI: 10.1093/nar/gky372
PMCID: PMC6125621

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BRCA1
BRCA2
CFTR
RHD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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