Bhatia, Gaurav Bansal, Vikas Harismendy, Olivier Schork, Nicholas J Topol, Eric J Frazer, Kelly Bafna, Vineet
Published in
PLoS computational biology
Genome wide association (GWA) studies, which test for association between common genetic markers and a disease phenotype, have shown varying degrees of success. While many factors could potentially confound GWA studies, we focus on the possibility that multiple, rare variants (RVs) may act in concert to influence disease etiology. Here, we describe...
DeBoever, Christopher Ghia, Emanuela M Shepard, Peter J Rassenti, Laura Barrett, Christian L Jepsen, Kristen Jamieson, Catriona H M Carson, Dennis Kipps, Thomas J Frazer, Kelly A
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Published in
PLoS computational biology
Mutations in the splicing factor SF3B1 are found in several cancer types and have been associated with various splicing defects. Using transcriptome sequencing data from chronic lymphocytic leukemia, breast cancer and uveal melanoma tumor samples, we show that hundreds of cryptic 3' splice sites (3'SSs) are used in cancers with SF3B1 mutations. We ...
