Bioinformatician

Job Description:
Would you like to work on improving our understanding and representation of human genes? Accurate identification and description of the genes in the human genome provides the foundation for high quality analysis of data informing both genome biology and clinical genomics. There are two widely used methods of annotating protein-coding genes: one led by EMBL-EBI (GENCODE) and the other by NCBI (RefSeq). We are recruiting a bioinformatician to provide bioinformatics support for a project to review the GENCODE and RefSeq annotation at clinically relevant loci in order to build a consensus subset of full length transcripts (Crest Project).

Tasks for this position will include work to:

• optimise and improve our transcript picking pipeline, developing extensions to the algorithm to increase our ability to identify functionally important transcripts;
• identify and reduce differences between RefSeq and GENCODE transcripts to achieve convergence;
• develop an iterative comparison of GENCODE and RefSeq annotation; identify cases of agreement and disagreement with the aim of resolving these computationally; identify and prioritise cases for manual checking and case-by-case discussion with RefSeq;
• develop methods to integrate external datasets to facilitate greater automation of annotation of transcripts and transcript termini;
• define guidelines and documentation to help interpret the data;
• liaise with manual annotators and automated-evidence-based gene annotators, as well as internal and external collaborators.

The bioinformatician will work within a team at the EMBL-EBI and in collaboration with scientists at the National Center for Biotechnology Information (NCBI). The Vertebrate Genomics team at the EMBL-EBI is one of the world’s leading groups for integration, annotation, analysis and presentation of genomic variation data. This environment provides access to an international collection of projects at the cutting edge of human genomic research.

Qualifications and Experience:

You should hold an MSc, PhD or equivalent experience in Computer Science, Bioinformatics, Genetics or related fields and be able to write, understand and maintain complex code. You will also have domain experience of eukaryotic genome annotation, the biology of gene expression, and sequence alignment.

We are looking for highly motivated candidates who possess scientific curiosity and initiative. Skill in delivering a high-quality product with excellent attention to detail and within fixed deadlines is essential. Excellent verbal and written communication, and interpersonal skills are a prerequsite as are problem solving skills, and the desire to learn and improve.

It is essential that you have proficiency in object-oriented programming and developing software in a primarily Unix-based environment. Familiarity with compute clusters and development tools such as Git would be an advantage.

Contract Duration: 3 years

Grading: 5 (monthly salary starting at £2,552 after tax)

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Requeriments :

• M.Sc. or higher Degree in Bioinformatics
• M.Sc. or higher Degree in Computer Science
• Master’s Degree in Genetics

Skills :

• Biology
• Lunix/Unix
• Programing Skills
• Software Design

Areas :

• Bioinformatics

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Additional Info:
Location: Hinxton

Salary: £2,552 monthly starting salary after tax (Grade 5).

Hours: Full Time

Contract Type: Fixed-Term/Contract

Placed on: 25th June 2018

Closes: 5th August 2018

Job Ref: EBI_01252

EMBL-EBI is part of the European Molecular Biology Laboratory (EMBL) and it is a world-leading bioinformatics centre providing biological data to the scientific community with expertise in data storage, analysis and representation. EMBL-EBI provides freely available data from life science experiments, performs basic research in computational biology and offers an extensive user training programme, supporting researchers in academic and industry. We have close ties with both the University of Cambridge and the Wellcome Trust Sanger Institute.

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