Phd Bioinformatics Intern

5 months ago

London, United Kingdom Genomics England Full time

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 - 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.

**Job Description**:
**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’re thrilled to offer a unique opportunity for a 2nd year PhD student or higher to join our Bioinformatics Consulting team.

This 4-6-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.

**Qualifications**:
Currently studying towards PhD in Bioinformatics /Genetics.

Additional Information
**Paid hourly at London Living wage (£13.15/hour)**

Being an integral part of such a meaningful mission is extremely rewarding in itself, but in order to support our people, we’re 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.

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 ot

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