During my PhD, I have received training in the field of cardiovascular genetics.This led to high-impact publications including one paper at Nature Genetics (IP: 36.4), a top-tier journal in genetics, at Journal of the American College of Cardiology (IP: 14.3),JACC has the second highest impact factor of cardiovascular journals.
During my current post-doctoral employment in Amsterdam, as well as during a short stay at the KULeuven (Prof. J. Vermeesch) I have furthered my experience with state-of-the-art genetic technologies including next generation/exome sequencing and GWAS.
Projects during my Post-doc:
Project 1: Development of next generation sequencing (NGS) technology, strategy and analysis in the group.
- Development of pipeline analysis for NGS including variant annotation, public exome/genome databases.
- Identification of mutation in CALM1 (by exome sequencing), encoding calmodulin, as a cause of familial idiopathic ventricular fibrillation in childhood and adolescence (Published in JACC).
- Exome sequencing on an Irish family with Brugada Syndrome uncovering a novel locus for the disorder.
- Development (first world-wide user) and application of a new capturing technology (Haloplex, Agilent) enabling capture and sequencing of a panel of 150 cardiac genes at once.
Project 2: Leading role in a pilot genome-wide association study (GWAS) on a rare cardiac arrhythmia: the Brugada Syndrome ( published in Nature Genetics).
- Collection and harmonization of ECG and clinical data from 13 clinical centers in Europe, US and Japan.
- Statistical analysis
- Validation of genetic findings, functional studies, manuscript writing.
Mes compétences :
Nouvelle génération de séquençage
Etude d'association génome entier
cardiovasculaire
Nouvelles technologies
Génétique
Pas de formation renseignée