Hello,

Here are the minutes of the call. The next call will be in a week, September 27.

- We went through the state of all the analyses lab-by-lab. Much of it is quite far already or close to finished, but there are also plenty of missing parts still. Tuuli will summarize these into a bullet-point outline of the paper - there is still some time to finish the analysis, but we need to start getting focused on the for the paper.
- Matthias presented slides on splicing and soft splicing variation. We'll need to think about ways to measure variation between individuals and populations, especially the soft splicing aspect is something that others are not working on. Maybe the statistics that especially Jean and Mar have been using could be applied here as well.
- Micha presented some slides about the splice site scores that he has calculated (for canonical and alternative splice sites, for reference sequences and variant ones for the cases when a splice site has variant(s)). He's produced a vcf file of this and it will be available shortly.

best,
Tuuli

Tuuli Lappalainen, PhD
Department of Genetic Medicine and Development
University of Geneva Medical School
CMU / Rue Michel-Servet 1
1211 Geneva 4
Switzerland
Tel. +41-(0)22-3795550
tuuli.lappalainen@unige.ch

On /19/912 17:02 PM, Tuuli Lappalainen wrote: