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    Opportunity: Bioinformatician @ A renowned institute in the field of genomics and bioinformatics -- Oxford, UK
    Submitted by Eugene Mc Daid; posted on Wednesday, January 23, 2019



    An exciting opportunity has arisen for a strong Bioinformatician to join a renowned institute in the field of Genomics and Bioinformatics. The organisation has an outstanding history of applying cutting-edge genomics technologies to the discovery of novel disease genes as well as successfully translating genomics into the clinic to inform diagnosis and treatment of patients.

    The ideal candidate will be familiar with a variety of methods for generating and analysing human genome sequence data. Experience using a range of genomic bioinformatics pipelines to provide comprehensive annotation and interpretation of variants, including single nucleotide, copy number and structural variants, is required. Knowledge of publicly accessible databases and resources is expected, as is the programming expertise to develop and troubleshoot new pipeline elements to improve speed and accuracy of annotation. In addition, familiarity with use of other 'omics data sets to provide a detailed catalogue of information supporting candidate disease variants would be desirable.


    • Develop and apply bioinformatics pipelines for analysis of human genome sequencing data including alignment, calling, annotation and interpretation of single nucleotide, copy number, non-coding and structural variants. Develop novel algorithms to improve the performance of the pipeline and address annotation of variants in regulatory and non-coding regions.
    • Conduct analysis of genome sequencing data from rare diseases and cancer patient samples leading to identification of disease causing variants.
    • Contribute to maintenance of the pipeline and data management ensuring quality and version control and integrity and security of genome sequencing datasets.
    • Contribute to Genomics England (GEL) national 100,000 Genomes programme through analysis and interpretation of GEL data, liaising with GEL bioinformaticians and Oxford PIs. Provide bioinformatics expertise on Genomics England Clinical Interpretation Partnerships (GeCIPs) as required and appropriate. Conduct special data analyses in close collaboration with GEL and bioinformaticians from other GeCIP-associated research groups.
    • Incorporate protein informatics and pathway analyses to support a comprehensive assessment of variants and integrate data from other `omics as required.
    • Conduct own research projects in development of novel bioinformatics tools and algorithms and/or contribute to disease specific research projects within the group. Write up results for publication in high quality journals and present research results at international meetings. Contribute to grant applications, taking the initiative to identify sources for funding research projects.
    • Keep abreast of methodology developments relevant to the field, including evaluation of commercial or other software packages for analysis, annotation and interpretation of sequencing data, and integrate with existing data analysis pipelines.
    • As appropriate for the projects, assist with translation of sequencing technology / pipelines into clinical use. Contribute ideas and communicate effectively with other bioinformaticians, geneticists, clinical researchers, statisticians and clinical informatics staff.
    • Provide written reports on activity for internal use and for funding agencies.
    • Communicate frequently and effectively with the BRC project teams, including laboratory scientists, clinicians and PIs, to discuss the bioinformatics requirements of projects, report data, review results and ensure that the tasks are completed satisfactorily. Participate in lab group meetings and contribute to discussions at these.


    • A PhD in Bioinformatics or Statistical Genetics
    • Strong postdoctoral experience in analysis and interpretation of genome sequencing data to include full spectrum of single nucleotide and structural variants, copy number abnormalities as well as assessment of variants in regulatory or non-coding regions
    • Excellent programming skills in languages such as Perl, C/C++, R, Python, Java, SQL or similar
    • Experience of improving and maintaining bioinformatics pipelines and demonstrable commitment to quality and version control and secure data management
    • Knowledge of genetic variant databases such as Decipher, ClinVar, Clingen and disease-specific databases to inform variant annotation
    • Familiarity with protein informatics to inform assessment of impact of variants on proteins' secondary and tertiary structures, protein-protein interactions and protein expression
    • Demonstrable experience in conducting independent research delivering high quality scientific outputs and with proven ability to write up scientific findings in peer-reviewed journals
    • Ability and willingness to assess relevant new bioinformatics developments relevant to genomic and protein bioinformatics, including commercial software packages, and apply them efficiently, as appropriate to improve data analysis
    • Willingness to contribute to collaborative programmes including Genomics England and DDD and analyse data within the environments and according to the regulations of these programmes
    • A high degree of self-motivation and initiative and ability to both work independently and collaborate within teams to meet project deadlines
    • High level of attention to detail, self-organisation and timeliness
    • Excellent communication skills (both written and oral) with the ability to communicate effectively at all levels (of technical knowledge)
    • Enjoy working in a fast moving and motivated scientific environment


    Please do not hesitate to contact Harvey Uppal at huppal[at] or call (+44) 121 616 3407 to discuss this opportunity further.

    Keywords: Bioinformatics, Statistical, Genetics, Genomics, Rare Diseases, Cancer, Omics, NGS, WGS, WES, Germline, Somatic, RNA, Machine Learning, Clinical, Variants, Python, Perl, R, Senior, Oxford

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