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Transcriptome sequencing reveals potential mechanism of cryptic 3' splice site selection in SF3B1-mutated cancers. PDF available through Get Fulltext Research

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 ...

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 ...

A covering method for detecting genetic associations between rare variants and common phenotypes. PDF available through Get Fulltext Research

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...

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