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Please note the final planned GREGoR website downtime in April:

  • Friday, April 19  at 5 pm PT to Monday April 22 at 8 am PT (63 hours)

During this time the GREGoR website will be down and users will be unable to log into the DCC's AnVIL management web app to link their AnVIL accounts. Please contact the DCC at gregorconsortium@uw.edu if you have questions or need help during the downtime.

Partner Group: Li - University of Chicago (Research Grant awardee)

PI
Description

Novel methods to facilitate identification and visualization of aberrant splicing associated with rare human disease

We will develop an innovative topic modeling approach to detect outlier RNA splicing at the isoform level. Topic modeling, also known as "factor analysis", has been used previously in many settings, e.g. to classify texts based on inferred "topics" and to estimate admixture from genetic data. Recently, topic modeling has been extended in several ways to model RNA-seq data. We propose to leverage the topic modeling approach for detecting and visualizing outlier splicing events. STM is well suited for modeling isoform diversity and outlier isoforms because the expression of a gene is composed of multiple isoforms, which can be thought of as different topics or factors.

Date approved