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The development of a of genomic variant ‘truth set’ to aid next-generation sequencing- based cancer diagnostics

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  • Full or part time
    Mr A NIBSC
  • Application Deadline
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  • Funded PhD Project (Students Worldwide)
    Funded PhD Project (Students Worldwide)

About This PhD Project

Project Description

PhD studentship (reference number PhD_ATD_NIBSC)

A 3-year full-time PhD studentship is available in the Division of Advanced Therapies, National Institute for Biological Standards and Control (NIBSC), in collaboration with the University of Glasgow. The studentship is anticipated to commence on 1st October 2020.

About the Project
The PhD candidate will have the unique chance to participate to an exciting area under development in genomics and cancer diagnostics: the release of a comprehensive set of validated variants for somatic analyses. Various reference standards have been developed to benchmark NGS pipelines, including well-characterized biological samples, synthetic controls and in silico data sets. However, this reference set contains germline samples only and does not contain the types of variants commonly found in cancer samples.

The assessment of somatic variants introduces challenges that are quite different from those present in the germline and therefore an equivalent somatic reference standard with “ground truth” variants would enhance not only the development of multiplex cancer assays, platforms and pipelines but also study reproducibility, interpretation of results generated using different platforms and pipelines, validation using orthogonal techniques, assays calibrations and consistent reporting of somatic events. By contributing to both bioinformatics activities, as well as to laboratory validation and testing, the PhD. student will contribute building such an important reference material, which to date has not yet been created.

The National Institute for Biological Standards and Control (NIBSC) is a centre of the MHRA and a global leader in the characterisation, standardisation and control of biological medicines. NIBSC is the world’s major developer and distributor of World Health Organisation (WHO) International Standards and reference materials and our expert scientists provide advice on a routine basis and in response to emergencies.

About the Group
The Genomic Reference Materials group, within the Division of Advanced Therapies, is leader in the development of reference materials, to ensure accurate diagnosis of genetic and genomic disorders.

Awarding Institution
The successful candidate will be registered with the Institute of Cancer Sciences in the College of Medical Veterinary and Life Sciences at the University of Glasgow. The successful candidate will be affiliated with the Glasgow Precision Oncology Laboratory (GPOL), a major component of the Cancer Research UK West of Scotland Cancer Centre and world-leading institute in the clinical cancer genomics field.

About You
As a candidate you will be a motivated individual with a keen interest in undertaking research in the field of cancer genomics with a focus on NGS and bioinformatics analysis. You will have, or expect to achieve a 1st or 2:1 (or international equivalents) in a relevant subject; or a 2:2 (or international equivalent) and a masters’ degree (or substantial experience), both in a relevant subject.

For further details of the project, essential requirements for study and details on how to apply, see

Closing date for applications: 30th April 2020.

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