Jean Monlong
Human Genetics, McGill
I arrived in Montreal at the end of 2012. Since then I’m working on Structural Variant detection, more specifically in regions with low mappability. These regions are full of transposable elements, short tandem repeats, or segmental duplications, which confuse read mapping. However, by using many samples we can learn the expected mapping in each regions and detect when the read coverage is abnormal without being biased by the effect of repeats. That’s the idea of the method I implemented, PopSV. I’m now applying it to different datasets, including cancer and non-cancer diseases, whole-genome sequencing as well as exome and targeted sequencing.
Barcelona
I finished my engineering diploma with an Erasmus year in Barcelona at the Universitat Politècnica de Catalunya. The next year, I came back to make my thesis project at the Centre for Genomic Regulation. In the group of Roderic Guigó, I looked at alternative splicing variation from RNA-Seq data. More specifically, I implemented a method to detect SNPs associated with changes in transcripts relative expression (splicing-QTLs). sQTLseekeR is a R package available on GitHub (Nat. Comm), and I used it to discover sQTLs in lymphoblastoid cell lines (Geuvadis) and across different human tissues (GTEx).
