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Bioinformatics Software Developer

Introduction

Blueprint Genetics is on a mission to bring world-class genetic knowledge to mainstream healthcare. In this quest, we are a team of experienced professionals with diverse backgrounds who share the passion for helping patients and families suffering from inherited disorders. Our constantly evolving diagnostic portfolio currently includes over 225 tests that cover a wide variety of clinical specialties and diagnostic approaches, including Whole Exome Sequencing. We work with hundreds of clinics around the globe and the quality of our clinical reports has been praised by many of the world’s most renowned medical centers. If you have the ambition to be among the pioneers of the molecular era of medicine, you might be the person we are looking for.

At the core of our diagnostics we utilize Next Generation Sequencing (NGS) technologies, which produce large quantities of data, requiring highly efficient computing infrastructure and data analysis pipelines. To meet the challenges imposed by our rapid growth and constant strive for state of the art analytic solutions, we are looking for a software developer to join our Bioinformatics R&D team. 

Job description

In this position, you will be part of the Bioinformatics R&D team, but will also work closely with our Clinical Bioinformatics, Software Engineering, Data Science and Infrastructure teams. You work in a versatile role, combining NGS data analysis and programming skills, to further develop and maintain our state-of-the-art analysis pipelines and tools, leveraging the power of workflow management frameworks in the cloud. The work will also include software virtualization and deployment using container technology.

As the software solutions the team develops - which the Clinical Bioinformatics team operates in production - fall under medical device regulations, you are also expected to be involved in the process of software testing and validation, as well as providing thorough and concise documentation.

As a person, you have strong analytical skills combined with a curious mind. You are eager to learn, you bravely try new ways and you are quick to adapt and correct your way of working when required.  Though you are self-driven and like to take initiatives, you’re truly a team player and enjoy to interact within and across teams.

Qualifications

You should have an at least an MSc in Bioinformatics, Computational Science or related field. You have more than 2 years’ working experience of developing data analysis pipelines and/or software solutions in the field of NGS/Bioinformatics. In addition, you possess excellent communication skills in both written and spoken English.

Experience with one or more of the following tools and technologies is considered an asset:

Sequence analysis tools & programming languages

  • Programming (GO, R, Python, Perl)
  • Sequence alignment (BWA, Bowtie)
  • Variant calling (GATK, SAMtools)
  • Variant annotation (VEP, ANNOVAR, VCFAnno)

Technologies & frameworks

  • Next-generation sequencing (NGS)
  • High performance computing (HPC
  • Cloud computing
  • Illumina, PacBio and IONTorrent platforms
  • DNANexus
  • AWS
  • Virtualization & Containerization frameworks
  •  WDL
  • Cromwell

Regulations & conformity

  • Quality Management Systems
  • Software Lifecycle for medical devices (ICE 62304)
  • ISO -13485, ISO-14971

We also appreciate if you have:

  • Strong analytical and problem-solving skills
  • Positive attitude and open to challenges
  • Great attention to detail
  • Excellent follow-through abilities
  • Team player
  • Fitting the immediate, low-hierarchy and positive culture of Blueprint Genetics

What we offer

At Blueprint Genetics, you get to be a valued part of our global and multidisciplinary team of people who want to make a difference. You will be working daily to bring your expertise from base pairs to bedside for improved patient outcomes.  We offer you a rapidly evolving working environment where you can learn and grow together with a unique company and great colleagues. You get to use everything you have learned in an environment that is unlike anything you have experienced before.

Please submit your application and CV along with your salary request at the latest on January 25. The position will be filled as soon as suitable candidate is found.

Inquiries about the position can be sent to Bioinformatics R&D Manager Ville Kytölä at ville.kytola[at]blueprintgenetics.com

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