Senior Bioinformatician – Prenatal Analysis of Genomes and Exomes

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Job date: 2014-10-29
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Company : Wellcome Trust Sanger Institute 

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Role : Research Scientist 


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Job Description:

We are seeking an experienced bioinformatician or computer scientist with a keen interest in biology to join the Informatics team supporting the new Prenatal Analysis of Genomes and Exomes (PAGE) project at the Sanger Institute. You must be able to demonstrate strong programming / software development skills with an aptitude for developing analytical tools and pipelines. The successful candidate will enjoy working in multi-disciplinary team environment and will be able to develop production quality software from a minimal specification, in collaboration with the existing team members.

The PAGE project will perform exome and / or genome sequencing on tissue samples taken from approximately 1000 foetuses where an abnormal ultrasound scan indicates the presence of a potential developmental disorder. The parents will also provide saliva samples, allowing sequencing of the complete family trio. The successful candidate will drive and manage the analysis of this sequencing data, using existing pipelines developed as part of the Deciphering Developmental Disorders (DDD) project as well as bespoke / new analyses as required for this dataset.

The successful candidate will work closely with established lead developers and analysts in the DDD team. The candidate should be able to demonstrate competency in programming in more than one language. Experience of writing and maintaining bioinformatics pipelines would also be an advantage.

Essential Skills
•Degree in computer science, bioinformatics or a related discipline
•Strong programming skills, with the flexibility and willingness to learn new languages to take advantage of existing code bases
•Familiarity with developing in a UNIX/Linux environment
•Ability to work with others in a collegiate manner
•Ability to work independently to efficiently meet deadlines
•Ability to work independently or as part of a larger team

Ideal Skills
•Experience of working with Next Generation Sequencing (NGS) data
•Experience of statistical analyses, e.g. using R
•Experience of Perl programming is desirable but not essential, however the candidate will be required to learn and use Perl in this role.
•Experience of analysing large and / or complex data sets
•Experience of developing and running analytical pipelines
•Experience of running code on a cluster (e.g. LSF, PBS, Oracle / Sun Grid Engine)
•Experience in Bioinformatics / sequence analysis

Other information

For further information or questions about this post please contact Philip Jones (pj1@sanger.ac.uk).

The Sanger Institute is a charitably funded research centre that applies the power of genomics to uncover the basis of genetic and infectious disease. We conduct science at a scale and speed that sets our research apart. Our passion is to provide results that can be translated into diagnostics, treatments or therapies that reduce global health burdens.

The Institute is located near Cambridge on the stunning Wellcome Trust Genome Campus. This growing and dynamic site is the British hub of genomic science. It hosts the European Bioinformatics Institute (EBI), the Centre for Therapeutic Target Validation, a Biodata Innovation Centre and will soon host Genomics England Limited’s 100,000 Genomes Sequencing Centre. It is an excellent environment in which to work and collaborate with researchers on campus and around the world and benefit from cross-fertilisation of ideas.

To help researchers to develop their skills and networks, the Institute hosts a range of scientific seminars with internal and invited speakers, scientific group meetings and skills development workshops. In addition the Campus is home to the Wellcome Trust Advanced Course and Scientific Conferences programme and the Wellcome Trust Conference Centre.

Our Benefits include: Defined Benefit Pension Scheme, Group Income Protection, Healthcare scheme, Childcare Vouchers, Nursery and 25 days Annual Leave plus Bank Holidays. We also have a gym, two cafes, a nursery, dining facilities, and a free campus Bus service. Our thriving Sports and Social Club provides many opportunities to meet with people working across the campus.

When applying please submit both a CV and a covering letter describing your motivation to apply for this position.


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