Rita D. Brandão

TL;DR: This review describes the recent technological developments in NGS applied to the field of oncology and a number of clinical applications are reviewed, i.e., mutation detection in inherited cancer syndromes based on DNA- sequencing, detection of spliceogenic variants based on RNA-sequencing, DNA-sequenced to identify risk modifiers and application for pre-implantation genetic diagnosis, cancer somatic mutation analysis, pharmacogenetics and liquid biopsy.

TL;DR: Functional assays for BRCA1 to directly or indirectly assess the impact of a variant on protein conformation or function and how these results can be used to complement genetic data to classify a VUS as to its clinical significance may provide a framework for genome‐wide pathogenicity assignment.

TL;DR: In this paper, a large BRCA2 genomic insertion was recurrently observed in their participants, and they sought to characterize it at the molecular and phenotypic level at the diagnosis level.

TL;DR: In this paper, the Evidence-Based Network for the Interpretation of Germ-Line Mutant Alleles consortium combines RT-PCR, exon scanning, cloning, sequencing and relative semi-quantification to describe naturally occurring BRCA1 alternative splicing with unprecedented resolution.

TL;DR: The baiting kit is useful for reconstructing well-supported phylogenetic relationships within Annonaceae at different taxonomic levels, and it is found that substitution rate heterogeneity between the two subfamilies is also found within the nuclear compartment.