Feb. 11, 2020. Article about allele-specific alternative splicing published

Posted on February 12, 2020March 30, 2020 by Peter Rogan

Mucaki, E.J., Shirley, B.C. and Rogan, P.K., 2020. Expression changes confirm genomic variants predicted to result in allele-specific, alternative mRNA splicing. Frontiers in Genetics, 11: 109 (https://www.frontiersin.org/articles/10.3389/fgene.2020.00109/full).

(preprint in bioRxiv, 549089 [doi: https://doi.org/10.1101/549089])

Pan-Cancer Splicing Web Beacon to be Presented at ACMG Meeting

Posted on April 1, 2019April 1, 2019 by Peter Rogan

We’re giving a demonstration and a poster presentation of our new GA4GH-compliant web-based Beacon (https://validsplicemut.cytognomix.com) at the 2019 American College of Medical Genetics and Genomics annual conference this week.

Here are the details:

Pan-Cancer Repository of Validated Natural and Cryptic mRNA Splicing MutationsCategory: “Laboratory genetics and genomics”, Abstract Poster Number: 754 (link to abstract)

Where: Exhibit hall, Washington Convention Center, ACMG Clinical Genetics Meeting in Seattle, Washington

When: April 2 – 6, 2019; Poster presentation time: Friday, 4/5 from 10:30am-12:00pm