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Dr. Antonio Rausell has an Engineering degree with a focus in Biotechnology and a PhD in Bioinformatics. He did his PhD under the supervision of Prof. Alfonso Valencia at the Spanish National Cancer Research Center (CNIO). From 2012 until February 2016 he worked as a postdoctoral researcher with a double affiliation to the Swiss Institute of Bioinformatics (SIB) with Prof. Ioannis Xenarios, and the University Hospital of Lausanne with Prof. Amalio Telenti. During that time he specialized in the study of the genetic basis of susceptibility to infectious diseases and the heterogeneity in the innate immune response at single-cell level. His findings have contributed to better characterizing two main paradigms arising from large-scale genome and transcriptome sequencing projects: A) the widespread potential to cause disease of rare loss-of-function variants occurring in heterozygosis through haploinsufficiency or negative dominance; and B) the transcriptional basis of the heterogeneity in permissiveness to infection across single cells within individuals.
In March 2016, Dr. Rausell joined the Imagine Institute as Director of the new Clinical Bioinformatics lab. His group develops bioinformatics tools with a clinical focus in two main areas of current research in genetic diseases:
Ressources & publications
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Journal (source)Genome Biol.
NCBoost classifies pathogenic non-coding variants in Mendelian diseases throu...
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Journal (source)PLoS Pathog.
Single-cell analysis identifies cellular markers of the HIV permissive cell.
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Journal (source)J. Allergy Clin. Immunol.
Generation of adult human T-cell progenitors for immunotherapeutic applications.
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Common homozygosity for predicted loss-of-function variants reveals both redu...
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Journal (source)Science
Auto-antibodies against type I IFNs in patients with life-threatening COVID-19.
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Journal (source)Nat Biotechnol
Gene signature extraction and cell identity recognition at the single-cell le...
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Journal (source)Cell Mol Immunol
A DL-4- and TNFα-based culture system to generate high numbers of nonmodified...
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Journal (source)Nature Biotechnology
Gene signature extraction and cell identity recognition at the single-cell le...
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Journal (source)Am J Hum Genet
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with c...
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Journal (source)Sci Data
Meta-analysis of single-cell and single-nucleus transcriptomics reveals kidne...