Friday, 10 July 2015 – Wicklow Meeting Room 2

Saturday, 11 July 2015 – room t.b.a.

Des Higgins, PhD
Presentation Title: Making and using extremely large multiple sequence alignments.

Short Bio: Des Higgins is professor of Bioinformatics in University College Dublin, Ireland and has been working on sequence alignment and molecular evolution since the mid 1980s. He originated the widely used Clustal package and continues to develop and maintain multiple sequence alignment algorithms and software. He also works on the analysis of high throughput genomics data, especially in the application of multivariate analysis methods for data integration. He has published more than 130 peer-reviewed articles in bioinformatics, sequence alignment and genomics with an h-index of 54.

Christopher E. Mason, PhD
Presentation Title: Leveraging short and long reads for optimal RNA-Sequencing with CAMDA data set #1.

Abstract: To sequence more or not to sequence more? That is the question. Is it better to suffer the slings and arrows of outrageous haplotypes or not? Here we use the SEQC datasets to titrate reads lengths at varying scales to discern the impact of read length on quantification, splicing detection, and detection efficiency, and we show that for expression-based goals, reads generally do not need to go beyond 50bp. However, for splicing detection, longer reads significantly improve one's ability to classify and detect isoform changes. Finally, we comment on the significance of low-abundance isoforms that can reveal new roles of subsets of RNA. These results can help plan experimental design for both large and small-scale RNA-seq studies.

Short Bio: Christopher E. Mason completed his dual B.S. in Genetics and Biochemistry from University of Wisconsin-Madison in 2001, his Ph.D. in Genetics from Yale University in 2006, and his post-doctoral training at Yale Medical School, while also holding a fellowship at Yale Law School. In 2009, Dr. Mason founded his laboratory as an assistant professor at Weill Cornell Medical College in the Department of Physiology and Biophysics and at the Institute for Computational Biomedicine. Professor Mason also holds an appointment in the Tri-Institutional Program on Computational Biology and Medicine between Cornell, Memorial Sloan-Kettering Cancer Center and Rockefeller University and he also has an appointment at the Weill Cornell Cancer Center and the Brain and Mind Research Institute. In 2013, he won the Hirschl-Weill-Caulier Career Scientist Award. In 2014, he won the Vallee Foundation Young Investigator Award, the CDC Honor Award for Standardization of Clinical Testing, and he was just named as one of the “Brilliant Ten” Scientists in the world by Popular Science magazine. In 2015, he became the first WorldQuant Foundation Research Scholar, was recently promoted to associate professor, and his work has been featured across the world in over 300 media outlets.