HALathon 2021 UPPA

Vos documents déjà déposés

#	Type	Année	Titre	doi	Notice HAL	accès HAL	label OA
1	ART	2020	Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants	10.1038/s41436-020-0862-x	inserm-03193473	fichier	pubmedcentral
2	ART	2016	Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms	10.1093/hmg/ddw094	hal-02336165	label OA	openaccess

Daniel Barnes, Matti Rookus, Lesley Mcguffog, Goska Leslie, Thea Mooij, et al.. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. Genetics in Medicine, Nature Publishing Group, 2020, 22 (10), pp.1653-1666. ⟨10.1038/s41436-020-0862-x⟩. ⟨inserm-03193473⟩
Miguel de la Hoya, Omar Soukarieh, Irene Lopez-Perolio, Ana Vega, Logan Walker, et al.. Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. Human Molecular Genetics, Oxford University Press (OUP), 2016, 25 (11), pp.2256-2268. ⟨10.1093/hmg/ddw094⟩. ⟨hal-02336165⟩