Venue: Biomedicum 1, Meeting room 8-9, P floor

Timing: 15:30 onwards

Presenter: Dr. Ari Löytynoja, Group Leader, Institute of Biotechnology

Generalised model of local template switch mutations

Replication-related template switch mutations are known to create short,
perfect inverted repeats in bacteria. We developed a generalised model
(the four point mutation model; 4PM) that describes local template
switches in DNA replication. Using this model, we studied the mutation
clusters in human and primate sequence data and found that large numbers
of these are caused by template switch events. The 1000 Genomes data
show that 4PM events segregate in human populations and the Icelandic
trio data contain de novo 4PM events. I describe the 4PM alignment
algorithm and the computational analyses involved in the study
(http://biorxiv.org/content/early/2016/09/27/038380). I will then
discuss what the findings mean for reference-based sequencing studies
and for the evolution of genomes.

Venue: Biomedicum 1, Meeting room 5-6, 3rd Floor

Timing: 15:30 onwards

Presenter: Dr. Matti Kankainen, Bioinformatics Team, FIMM

Best practices in RNA-seq data analysis

RNA sequencing (RNA-seq) has become an indispensable tool to characterize transcriptomes and understand the molecular indicators of disease and treatment. It is a powerful technology to study gene expression and discover novel isoforms, in addition to which RNA-seq has proven to be highly useful technique to discover expressed coding variants, deep intronic mutations, and fusion-transcripts. In this talk, I will describe how we at the FIMM sequencing center process RNA-seq data from model organisms and will give a sneak preview to the upcoming new analysis features we are developing at the moment.