Fundación Pública Galega de Medicina Xenómica
Centro de investigación
![Foto de Fundación Pública Galega de Medicina Xenómica](/img/noimage.png)
![Foto de University of Otago](/img/noimage_org.png)
University of Otago
Dunedin, Nueva ZelandaPublicacións en colaboración con investigadores/as de University of Otago (6)
2020
-
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Nature Genetics, Vol. 52, Núm. 1, pp. 56-73
2019
-
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
Human Mutation, Vol. 40, Núm. 9, pp. 1557-1578
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
Human Molecular Genetics, Vol. 25, Núm. 11, pp. 2256-2268
2014
-
Comparison of mRNA splicing assay protocols across multiple laboratories: Recommendations for best practice in standardized clinical testing
Clinical Chemistry, Vol. 60, Núm. 2, pp. 341-352
-
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: A report from the ENIGMA consortium
Human Molecular Genetics, Vol. 23, Núm. 14, pp. 3666-3680