Job Description

Company Description
Genomics England partners with the NHS to provide whole genome sequencing diagnostics. We also equip researchers to find the causes of disease and develop new treatments \xe2\x80\x93 with patients and participants at the heart of it all. Our mission is to continue refining, scaling, and evolving our ability to enable others to deliver genomic healthcare and conduct genomic research. We are accelerating our impact and working with patients, doctors, scientists, government and industry to improve genomic testing, and help researchers access the health data and technology they need to make new medical discoveries and create more effective, targeted medicines for everybody.


Join Our Team as a PhD Bioinformatics Intern Are you ready to embark on an internship, based in the field of Genomics, specifically Rare Disease? We\xe2\x80\x99re thrilled to offer a unique opportunity for a 2nd year PhD student or higher to join our Bioinformatics Consulting team. This 4\xe2\x80\x936-month internship is centred around a genomic rare disease project, where you will play a crucial role in cohort characterisation and discovery analysis within rare disease phenotypes of the 100,000 Genomes project This internship will provide you with increased tools, knowledge and experience during an opportunity to be hands on with using your current Bioinformatics skills. You will be using some of the best industry data sets of its kind, and receive knowledge, support and guidance whilst collaborating with our incredibly talented team of Bioinformaticians across Genomics England. Everyday Responsibilities include:

• Literature Search: Conduct a brief but thorough literature search surrounding the investigated rare disease, exploring its genomic and clinical context.
• Data Analysis: Dive into large-scale whole genome sequencing data and linked clinical data using bioinformatics tools and pipelines.
• Code Development: Develop code, documentation, and instructional materials for accessing data and running analyses in the project environment.
• Report Writing: Craft a comprehensive report that includes an analysis plan, results, and interpretation of the data and outcomes.
• Presentation: Present your findings and next steps to the wider Bioinformatics team, contributing to collaborative efforts.

Skills and Experience for Success:

• Programming Proficiency: Competent programming skills in R or Python for data processing and analysis.
• Bioinformatics Tools: Ability to use common Bioinformatics tools such as bcftools, samtools, plink, vcftools, VEP, and bedtools.
• Data Synthesis: Proficient in synthesizing phenotypic and genomic datasets into meaningful resources.
• Genomics Familiarity: Knowledge of scientific resources for human genomics, including gnomAD and annotation datasets.
• HPC Experience: Experience or knowledge of running simple interactive and batch jobs on the High-Performance Computing (HPC) infrastructure.
• Cohort Building: Knowledge of programatically building phenotypic cohorts.
• Interpersonal Skills: Excellent interpersonal and problem-solving skills to thrive in a collaborative team environment.
• Data Integrity: Commitment to responsible and respectful handling of patient cohort data.

If you\'re passionate about bioinformatics, genomics, and making a real impact in the field, we invite you to apply! Join us in this exciting journey of scientific exploration and contribute to groundbreaking discoveries in rare diseases. Apply now to join us as an intern working alongside our innovative Bioinformatics Consulting team! Closing date for applications 31st January 2023

Qualifications
Currently studying towards PhD in Bioinformatics /Genetics.
Additional Information
Paid hourly at London Living wage (\xc2\xa313.15/hour) Being an integral part of such a meaningful mission is extremely rewarding in itself, but in order to support our people, we\xe2\x80\x99re continually improving our benefits package. We pride ourselves on investing in our interns and supporting them to achieve their goals, as well as offering a benefits entitlement including: Annual leave Genomics England provide 2.5 days annual leave per calendar month. This is pro- rated in the case of starting or finishing mid- month. This is greater than the statutory requirement but Genomics England does not intend to confer any employment status in providing this benefit. We appreciate that you may wish to make the most of your time at Genomics England and not make use of these days during your internship. If this is the case, we will pay a sum equivalent to your annual leave in your final pay. Please discuss your preference with your Intern Coordinator. Hours There are no fixed hours of work but you can work with us for up to 37.5 hours per week. These will be agreeable with your Intern Coordinator on a weekly and monthly basis. Talk to our Talent Acquisition Partner who is managing this recruitment: jenna.milligan@genomicsengland.co.uk
Genomics England is actively committed to providing and supporting an inclusive environment that promotes equity, diversity and inclusion best practice both within our community and in any other area where we have influence. We are proud of our diverse community where everyone can come to work and feel welcomed and treated with respect regardless of any disability, ethnicity, gender, gender identity, religion, sexual orientation, or social background. Genomics England\xe2\x80\x99s policies of non-discrimination and equity and will be applied fairly to all people, regardless of age, disability, gender identity or reassignment, marital or civil partnership status, being pregnant or recently becoming a parent, race, religion or beliefs, sex or sexual orientation, length of service, whether full or part-time or employed under a permanent or a fixed-term contract or any other relevant factor. Genomics England does not tolerate any form of discrimination, harassment, victimisation or bullying at work. Such behaviour is contrary to our virtues, undermines our mission and core values and diminishes the dignity, respect and integrity of all parties. Genomics England operates a blended working model as we know our people appreciate the flexibility. We expect most people to come into the office 2 times each month as a minimum. However, this will vary according to role and will be agreed with your team leader. For some people this is 1 day a quarter, for others it is several days a week. There is no expectation that staff will return to the office full time unless they want to. The exception would be some of our roles that would require you to be on site full time e.g., lab teams, reception team. Our teams and squads have, and will continue to, reflect on what works best for them to work together successfully and have the freedom to design working patterns to suit, beyond the minimum. Our office locations are Canary Wharf, Cambridge and Leeds. #LI-Hybrid As part of our recruitment process, all successful candidates are subject to a Standard Disclosure and Barring Service (DBS) check. We therefore require applicants to disclose any previous offences at point of application, as some unspent convictions may mean we are unable to proceed with your application due to the nature of our work in healthcare.