The interpretation of genomic variants has become one of the paramount challenges in the
post-genome sequencing era. In this review we summarize nearly 20 years of research on …

In silico tools have been developed to predict variants that may have an impact on pre-
mRNA splicing. The major limitation of the application of these tools to basic research and …

Increasingly, the effectiveness of adjuvant chemotherapy agents for breast cancer has been
related to changes in the genomic profile of tumors. We investigated correspondence …

Somatic mutations within non-coding regions and even exons may have unidentified
regulatory consequences that are often overlooked in analysis workflows. Here we present …

ABSTRACT BRCA1 and BRCA2 testing for hereditary breast and ovarian cancer (HBOC)
does not identify all pathogenic variants. Sequencing of 20 complete genes in HBOC …

Splice isoform structure and abundance can be affected by either noncoding or
masquerading coding variants that alter the structure or abundance of transcripts. When …

Characterizing the pathogenicity of DNA sequence variants of unknown significance (VUS)
is a major bottleneck in human genetics, and is increasingly important in determining which …

Somatic mutations reported in large-scale breast cancer (BC) sequencing studies primarily
consist of protein coding mutations. mRNA splicing mutation analyses have been limited in …

Background Sequencing of both healthy and disease singletons yields many novel and low
frequency variants of uncertain significance (VUS). Complete gene and genome sequencing …

Rationale: The growing recognition of the importance of splicing, together with rapidly
accumulating RNA-sequencing data, demand robust high-throughput approaches, which …