Hello! I'm Boris Rebolledo-Jaramillo

  • Assistant Professor, Center for Genetics and Genomics (CGG), Universidad del Desarrollo, Chile.
  • Bioinformatics Core Coodinator.
  • Instructor of graduate level Biostastistics and Bioinformatics.
  • Secretary General, Chilean Society for Genetics and Genomics (SOCHIGEN).

  • 2016 | Ph.D. in Bioinformatics and Genomics, Pennsylvania State University, USA.
  • 2012 | MSc. in Biochemistry and Bioinformatics, Universidad de Concepción, Chile.
  • 2009 | Bioengineering, minor in Mol. and Cell Biol., Universidad de Concepción, Chile.

    • CGG || Google Scholar || ORCID || LinkedIn || SOCHIGEN || Resume

    Learn about what I do

    Bioinformagic

    Research

    My laboratory develops bioinformatic pipelines for the discovery of causal genetic variants in rare undiagnosed disorders, with a focus on the study of the genetic coordination between the nuclear and mitochondrial genomes, and how genetic variability affecting the mito-nuclear interaction contributes to diseases.
    Currently funded by Chilean grant Fondecyt 11220642. You may read the grant proposal abstract here.

    Collaboration

    Chile lags behind the implementation of clinical genomics. Consequenly, we formed a team composed of clinicians, lab technicians and bioinformaticians to generate local expertise on exome data analysis, and provide an answer to local patients who have spent years in the health system trying to figure the cause of their condition.
    For more information visit www.pocofrecuentes.cl

    SABio

    SABio stands for "Servicio de Asistencia en Bioinformática" in Spanish, but it also translates to "wise person". We set up a cluster for high performance computing with the help of Chilean grant FONDEQUIP EQM150093. SABio, acts as a consulting service, primarily aimed at helping trainees to design and complete their genomic analyses on the cluster.
    For more details (in Spanish) click here.

    Preprints and published work highlights

    Publication in EJHG

    Decoding Complex Inherited Phenotypes in Rare Disorders: The DECIPHERD initiative for rare undiagnosed diseases in Chile.

    Preprint on medRxiv

    Prodromal manifestations of Parkinson’s disease in adults with 22q11.2 microdeletion syndrome

    Publication in Genes

    Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome.

    Publication in PNAS

    Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA.

    Feel free to reach out for bioinformatics training

    Find me on ...