Clinical Research Scientist (Maternity Cover)

We are seeking ambitious, highly-skilled, dedicated and reliable individuals with experience in medical research and data analysis who will be responsible for the analysis of genomic data from participants with rare diseases, internal team and external scientific communication, and ensuring that our research meets and exceeds the best international standards.

The Rare Disease Research Programme in Genuity Science provides whole genome sequencing analysis to children with undiagnosed rare disorders and their families, with the aim of identifying the genetic cause of their disorders. This research programme has a significant public impact, demonstrating the clinical utility of whole genome sequencing, and informing diagnoses.

We are seeking ambitious, highly-skilled, dedicated and reliable individuals with experience in medical research and data analysis who will be responsible for the analysis of genomic data from participants with rare diseases, internal team and external scientific communication, and ensuring that our research meets and exceeds the best international standards. As a Clinical Research Scientist for rare diseases, you must be self-motivated, with a high level of organisational ability, accuracy and attention to detail. You must also be able to work well, both independently and as part of a multidisciplinary research team in a high-paced and high-delivery environment.

This position does not involve any laboratory work and involves rare disease genetic data analysis. Experience with the analysis of genomic data is  highly recommended for this position.

Duties and responsibilities:

– To work efficiently with researchers, bioinformaticians, laboratory scientists, clinical team members, systems analysts, and software analysts;

– Analyse, integrate and interpret rare disease genomic and phenotypic data;

– Maintain an accurate record of the analysis workflow;

– Classify candidate variants using ACMG guidelines;

– Review medical/scientific literature and genetic databases to characterise variants;

– Discuss findings with Genuity Science team, collaborators and physicians;

– Develop disease specific Case Reports following discussions with physicians;

– Identify and execute continuous improvement strategies for the Rare Disease analysis workflow;

– Develop protocols and novel methods to accelerate disease variant identification.

Qualifications

Several of:

  • PhD or clinical experience in medical/ clinical genetics and genomics.
  • History of publication in top peer-reviewed scientific journals.
  • Ability to multi-task and prioritise duties to meet deadlines.
  • Detail oriented and conscientious.

 

Preferred Experience

Several of:

  • Experience in rare disease genomic research, involving specialization fields such as neurological, immunological, cardiology and dermatology
  • At least 2 years industrial, clinical or post-PhD academic research experience
  • Experience with multiple large genomic datasets analysis (e.g. gnomAD, OMIM, ClinVar)
  • Experience with CNV or structural variant analysis
  • Experience with tools for genomic interpretation and in silico predictors (e.g. SIFT, Polyphen-2, CADD)
  • Knowledge of bioinformatics tools to align, call and annotate variants (e.g. BWA, GATK, VEP)
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EEO Policy Statement: It is the policy of Genuity Science to provide equal employment opportunity (EEO) to all persons regardless of age, color, national origin, citizenship status, physical or mental disability, race, religion, creed, gender, sex, sexual orientation, gender identity and/or expression, genetic information, marital status, status with regard to public assistance, veteran status, or any other characteristic protected by federal, state or local law. In addition, Genuity Science will provide reasonable accommodations for qualified individuals with disabilities.

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Improving Lives Through Genomics

At Genuity Science, our mission depends on the shared commitment of our people, dedicated to helping us create a new reality for the future of health.

We serve the world’s leading life sciences companies including biotechnology, pharmaceutical companies and medical research centers. Our partners all use insights from genomic data to improve health. Our capabilities include providing access to population-scale patient cohorts for research, next generation sequencing (NGS) labs globally, and a team of the world’s leading genomic analysis and A.I. experts and technologies for organizing, mining and sharing genomic and disease biology data.

Employee Benefits include:

  • Private Health Insurance
  • Pension
  • Life Insurance
  • Stock Options
  • Generous Holiday Policy
  • Income Protection
  • Cycle to Work Scheme
  • Commuter Saver Scheme
  • Healthy Snacks
  • Office Shower Access