Ana
Vega Gliemmo
University of Otago
Dunedin, Nueva ZelandaPublications in collaboration with researchers from University of Otago (5)
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