DESCRIPTION

The Boztug lab at CeMM is searching for a Medical Geneticist or Next Generation Sequencing Bioinformatician to optimize data processing of high-throughput genomic data arising from various sequencing applications including exome, genome and transcriptome sequencing data, with the overall goal to fuel research on monogenic human diseases.

The Opportunity:
In this role you would be responsible for establishing and maintaining data processing pipelines for a variety of next-generation sequencing applications, with a focus on DNA sequencing, in particular, identification of single-nucleotide variants and small chromosomal mutations leading to the aberrant gene function. Wet-lab experience would be a plus but not a prerequisite. In addition, you would develop novel custom-designed algorithms for analysis of phenotype-based patient cohorts to identify underlying mutations and pathways.

The Candidate:
We are looking for a highly motivated candidate (bioinformatics or biomedical science background) with a strong interest in contributing to the genomics revolution of biomedicine and with an interest in research on rare and undiagnosed Mendelian diseases. Excellent communication skills will enable intensive exchange with both wet lab scientists and other bioinformaticians at CeMM. Any previous experience with clinical patient data and/or biobanking would be of value. Intellectual curiosity, flexibility and dedication to science will be key success factors in this exciting new role.

The Boztug Lab:
The main research interest of the Boztug Lab is molecular understanding of Mendelian disorders including inherited defects of the immune system (so-termed primary immunodeficiency disorders, see Salzer E et al JACI 2014, Boztug K et al Nature Genet 2014, Willmann K*, Klaver S* et al Nature Comm 2014, Dobbs K*, Dominguez Conde C*, Zhang S-Y*, Parolini S* et al New Eng J Med 2015). The group has accumulated a large collection of informative pedigrees and is performing state-of-the-art genomic analyses combined with functional assays to identify and validate novel disease-causing mutations. The genomic research comprises high throughput genetics/genomics such as high-resolution SNP arrays and deep sequencing as well as functional proteomics of protein complexes. Candidate genes are then studied in detail using an array of biochemical, immunological and imaging technologies to obtain molecular gene-to-phenotype relationships.

The Institute:
The CeMM Research Center for Molecular Medicine is an international and interdisciplinary research institute of the Austrian Academy of Sciences. Driven by medical needs, CeMM integrates basic research and clinical expertise to pursue innovative diagnostic and therapeutic approaches focused on cancer, inflammation and immune disorders. CeMM is located in a new tailor-made building at the center of the Vienna Medical University campus, within walking distance of Vienna's historical city center. According to a study by "The Scientist", CeMM is among the top-5 best places to work in academia world-wide (http://the-scientist.com/2012/08/01/best-places-to-work-academia-2012). Vienna is frequently ranked the world's best city to live. It is a United Nations city with a large English-speaking community. The official and dominating language at CeMM is English, as more than 30 different nationalities are represented.

HOW TO APPLY

To apply, please submit: a cover letter, curriculum vitae, and the contact details of at least two referees to application[at]cemm.at. Please refer to "Boztug lab Medical Geneticist/Bioinformatician" in the subject line.

DEADLINE

Application deadline: 31st December 2015.