Genomic and Epigenomic Variation in Disease
Bioinformatics and Genomics
2004 Diploma Thesis, University of Texas, Dallas, USA
2005-2010 PhD degree in Bioinformatics, Max Planck Institute for Developmental Biology and University of Tübingen, Germany
July 2010 Part-time postdoc, Kellis Group, MIT, Boston, USA
July 2010 Group leader at the Genes & Disease Program, CRG, Barcelona, Spain
April 2017 Double affiliation at CRG, Barcelona, Spain and the University of Tübingen, Germany
The study, published in the journal Scientific Reports, identifies the gene that causes Opitz C syndrome in the only patient diagnosed with this ultra-rare disorder in Catalonia, which affects only sixty people in the world. The identified mutation in the gene MAGEL2 coincides with the one seen in some patients with another minority disease, the Schaaf-Yang syndrome.
Researchers from the EU-funded BLUEPRINT project join their international colleagues this week at the 2016 International Human Epigenome Consortium (IHEC) conference in Brussels to report the latest results in understanding blood cell development and blood disease.
Barcelona takes part in the international research project MetaSUB, which aims to map the microbiome of public transit systems in 58 cities worldwide, including New York, Hong Kong, Paris or Sydney.
1. Understanding Cancer Genomes
2. Transcriptome and Exome Sequencing Analysis
3. Staphylococcus aureus Metagenomics
4. Exome Sequencing Analysis Identifies Genetic Causes of Human Diseases
5. Functional Variation Annotation and Visualization
6. Homology-guided Assembly
7. Human Pan-Genome Alignment