Bioinformatician - Rare Diseases

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

Job description

The Institute

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.

It is integrated with the Centre for Genomic Regulation (CRG), an international biomedical research institute of excellence, based in Barcelona, Spain, with more than 400 scientists from 44 countries. The CRG shares principles of an interdisciplinary, motivated and creative scientific team that is supported by high-end and innovative technologies and a flexible and efficient administration.

In November 2013, the Centre for Genomic Regulation (CRG) received the 'HR Excellence in Research' logo from the European Commission. This is a recognition of the Institute's commitment to developing an HR Strategy for Researchers, designed to bring the practices and procedures in line with the principles of the European Charter for Researchers and the Code of Conduct for the Recruitment of Researchers (Charter and Code).

Please, check out our Recruitment Policy

The role

The CNAG-CRG is looking for a bioinformatician to participate in the analysis and management of rare disease data, mostly related to the EC funded Solve-RD project ( Solve-RD aims to contribute to the IRDiRC vision by solving large numbers of undiagnosed rare diseases through sophisticated data analysis and integrated omics approaches. Thousands of undiagnosed exomes and genomes from Rare Disease patients are being collated at the CNAG-CRG using the RD-Connect Genome-Phenome Analysis Platform (; Solve-RD is also generating hundreds of other -omics datasets and the partners are collaboratively analysis the data using state-of-the-art and novel methods.


  • Collaborative 'omics data analysis in cutting edge projects on rare diseases, including workflow design and development, data mining, annotation, interpretation, reporting and scientific communication.
  • Evaluation and development of novel computational approaches for NGS data analysis.
  • Collaboration with international research and clinical communities.
  • Support in project reporting.

About the team

The selected candidate will join the Bioinformatics Analysis Unit led by Dr. Sergi Beltran. The multi-disciplinary 18 member Unit is focused on NGS data analysis and tool development, mostly related to human health. The Unit develops the RD-Connect Genome-Phenome Analysis Platform ( and participates, among other, in the European Joint Programme on Rare Diseases (, Solve-RD (, URD-Cat (, ELIXIR (, MatchMaker Exchange ( and GA4GH ( The bioinformatician will participate in rare disease data analysis in collaboration with post-doctoral researchers and technicians from the group and international partners.

Desired skills and expertise

Professional experience

Must Have

  • You have experience with NGS data analysis
  • You have good understanding of human genetics

Desirable but not required/ Nice to have

  • You hold a PhD
  • You have experience with human genetics and rare diseases
  • You have peer-reviewed publications in the field

Education and training

  • You hold a Master's degree in Bioinformatics or related discipline or Bachelor's degree with 2+ years of practical experience.


  • You are fluent in English

Technical skills

  • You have advanced Unix operating systems skills
  • You have proven experience with Unix shell scripts, Python or Perl and R.


  • Excellent teamwork, organizational and communicative skills

Contract duration and other benefits

The Offer - Working Conditions

  • Contract duration: 1 year with possibility to extend
  • Estimated annual gross salary: Salary is commensurate with qualifications and consistent with our pay scales.
  • Target start date: October 1, 2019

We provide a highly stimulating environment with state-of-the-art infrastructures, and unique professional career development opportunities. To check out our training and development portfolio, please visit our website in the training section.

We offer and promote a diverse and inclusive environment and welcomes applicants regardless of age, disability, gender, nationality, race, religion or sexual orientation.

The CRG is committed to reconcile a work and family life of its employees and are offering extended vacation period and the possibility to benefit from flexible working hours.

Required information and contact

Application Procedure

All applications must include:

  1. A motivation letter addressed to Dr. Sergi Beltran
  2. A complete CV including contact details.
  3. Contact details of two referees.

All applications must be addressed to Dr. Sergi Beltran and be submitted through the "Apply" button below

Selection Process

  • Pre-selection: The pre-selection process will be based on qualifications and expertise reflected on the candidates CVS. It will be merit-based.
  • Interview: Preselected candidates will be interviewed by the Hiring Manager of the position and a selection panel if required.
  • Offer Letter: Once the successful candidate is identified the Human Resources department will send a Job Offer, specifying the start day, salary, working conditions, among other important details.

Deadline: Please submit your application by 30th September 2019