Data Analyst for Personalised Medicine in Rare Disorders

Centre / Institution:
Center for Genomic Regulation
Bioinformatics expertise:
Bioinformatics of Disease and Treatment, Biomedical Informatics

Job description

The Centro Nacional de Análisis Genómico (CNAG-CRG) is one of the largest Genome Sequencing Centers in Europe. CNAG-CRG researchers participate in major International Genomic Initiatives such as the International Cancer Genome Consortium (ICGC), the International Human Epigenome Consortium (IHEC), the International Rare Diseases Research Consortium (IRDiRC) and the European Infrastructure for life-science information (ELIXIR), as well as in several EU-funded projects.

We are looking for a data analyst to setup and carry out data analysis for a large scale Personalized Medicine Project in Rare Disorders, recently funded by the Catalan Department of Health (PERIS 2017 call). The project aims to pilot a  clinical-genomics platform for rare disease diagnostics for the Catalan Health System, based on the RD-Connect platform ( developed at CNAG-CRG in the framework of an EU project.

The applicant should have experience with human genetics and genomics data analysis, preferentially within a diagnostics setting. He/She will work in close collaboration with medical doctors and clinical geneticists. The candidate must be pro-active and able to work independently on his/her specific projects and as part of a team.  He/she will be conducting analyses and should be able to design analysis workflows and biologically interpret results. He/she will also be expected to contribute to the software development and benchmarking efforts of the CNAG-CRG.


  1. Proactive data analysis in a cutting edge project on rare disorders, including workflow design, data mining, annotation, interpretation, reporting and scientific communication.
  2. Development, maintenance and operation of bioinformatics pipelines.
  3. Participate in the design of the clinical-genomics platform for the project.
  4. Collaboration with the Catalan and International research and clinical communities.


  1. A PhD in Genetics, Biology, Bioinformatics or related discipline and proven experience in the field.
  2. A minimum experience of 1 year in the analysis of Next Generation Sequencing data and interpretation of results.
  3. In-depth understanding of human genetics.
  4. Experience within diagnostic settings and/or the analysis of genotype-phenotype data will be highly valued
  5. Experience with Unix operating systems, including shell scripts.
  6. Able in languages such as Perl, Python or Ruby and R.
  7. Good spoken and written English.


Contract duration and other benefits

We offer a competitive salary and career progression.

Required information and contact

Interested candidates may submit a CV and a brief statement of experience and interests before January 14th 2018 (23:59 local time) to the following recruitment portal: