Job summary
A full time HCPC-Registered Clinical Bioinformatician is required to participate in the provision of the molecular genetic service. Applications will also be considered from candidates working towards registration.
The post holder will work closely with the bioinformatics team at GOSH and within the North Thames GLH to maintain and develop in house pipelines for both nuclear and mitochondrial DNA NGS analysis as well as bespoke programs designed to facilitate analysis of whole genome sequence data.
Main duties of the job
The post holder will provide expert bioinformatics leadership, knowledge and support for the provision and development of next generation sequencing (NGS) data analysis.
Responsibilities will include designing, implementing, maintaining and developing NGS data analysis pipelines for a range of applications including custom enrichment panels, whole exome sequencing and mitochondrial genome sequencing analysis as well as bespoke programs designed to facilitate analysis of whole genome sequence data.
About us
The Neurogenetics Laboratory of the UCLH National Hospital for Neurology and Neurosurgery (NHNN) is located alongside the Regional Genetics Laboratory at Great Ormond Street Hospital, forming the lead Rare Disease Laboratory in the North Thames Genomics Laboratory Hub (GLH). The Laboratory provides a regional, national and international diagnostic service for inherited neurological disease, including the Highly Specialised Services for Mitochondrial Disease, Rare Neuromuscular Disorders (skeletal muscle channelopathies) and Leukodystrophies..
The laboratory is ISO 15189:2012 accredited and has close associations with clinicians and research groups at the UCL Queen Square Institute of Neurology.
Job description
Job responsibilities
The role includes management of data storage and archiving. With the introduction of whole genome sequencing into the NHS diagnostic setting this is an evolving and challenging role suited to a flexible hardworking bioinformatician.
Previous experience in a diagnostic genetics laboratory or in NGS data analysis pipeline development and maintenance is essential; no previous experience in neurology is necessary.
For detailed information about this role, please refer to the attached Job Description (Supporting Documents).
Job description
Job responsibilities
The role includes management of data storage and archiving. With the introduction of whole genome sequencing into the NHS diagnostic setting this is an evolving and challenging role suited to a flexible hardworking bioinformatician.
Previous experience in a diagnostic genetics laboratory or in NGS data analysis pipeline development and maintenance is essential; no previous experience in neurology is necessary.
For detailed information about this role, please refer to the attached Job Description (Supporting Documents).
Person Specification
Knowledge and Qualifications
Essential
- BSc or equivalent in biological sciences, or another subject
- HCPC-Registered Clinical Bioinformatician or working towards registration
Desirable
- PhD in Computational Biology or bioinformatics, or equivalent experience
Experience
Essential
- Demonstrable experience of programming skills including a thorough knowledge of Python
- Proficient at coding in at least one or more of the following languages: Perl, R, C, Java
- Experience of working in human genetics
- Experience of integration and analysis of NGS data
- Experience of UNIX/LINUX operating systems to an advanced level
- Experience of the use and evaluation of open source software
- Experience of data mining and extraction from online databases (e.g. dbSNP, 1000 Genomes, UK 10K)
- Proficient in the use of genome browsers (e.g. UCSC, Ensembl)
- Experience of dealing with large data sets
- Previous managerial experience in a large and complex organisation preferably within the NHS
- Proven experience in service improvement and development
- Experience of database design and maintenance
Desirable
- Experience of software design and development
- Experience of gene network/interaction software
Skills and Abilities
Essential
- Quality focussed with an innovative approach and the ability to solve complex problems
- Excellent computer and keyboard skills
- Positive, "can do" attitude to work
- Evidence of excellent inter-personal communication skills
- Excellent organisational and time management skills with ability to prioritise tasks effectively
- Excellent IT, data management and data analysis knowledge and skills
- Proactive and innovative approach to service improvement and delivery
- Ability to collate, write, publish and present research findings
- Ability to identify and analyse data and findings for research publication and grant applications
Communication
Essential
- Excellent communication skills, verbal and written. Ability to succinctly explain complex analytical and organisational procedures to colleagues.
Personal and People Development
Essential
- Experience of training colleagues
Person Specification
Knowledge and Qualifications
Essential
- BSc or equivalent in biological sciences, or another subject
- HCPC-Registered Clinical Bioinformatician or working towards registration
Desirable
- PhD in Computational Biology or bioinformatics, or equivalent experience
Experience
Essential
- Demonstrable experience of programming skills including a thorough knowledge of Python
- Proficient at coding in at least one or more of the following languages: Perl, R, C, Java
- Experience of working in human genetics
- Experience of integration and analysis of NGS data
- Experience of UNIX/LINUX operating systems to an advanced level
- Experience of the use and evaluation of open source software
- Experience of data mining and extraction from online databases (e.g. dbSNP, 1000 Genomes, UK 10K)
- Proficient in the use of genome browsers (e.g. UCSC, Ensembl)
- Experience of dealing with large data sets
- Previous managerial experience in a large and complex organisation preferably within the NHS
- Proven experience in service improvement and development
- Experience of database design and maintenance
Desirable
- Experience of software design and development
- Experience of gene network/interaction software
Skills and Abilities
Essential
- Quality focussed with an innovative approach and the ability to solve complex problems
- Excellent computer and keyboard skills
- Positive, "can do" attitude to work
- Evidence of excellent inter-personal communication skills
- Excellent organisational and time management skills with ability to prioritise tasks effectively
- Excellent IT, data management and data analysis knowledge and skills
- Proactive and innovative approach to service improvement and delivery
- Ability to collate, write, publish and present research findings
- Ability to identify and analyse data and findings for research publication and grant applications
Communication
Essential
- Excellent communication skills, verbal and written. Ability to succinctly explain complex analytical and organisational procedures to colleagues.
Personal and People Development
Essential
- Experience of training colleagues
Disclosure and Barring Service Check
This post is subject to the Rehabilitation of Offenders Act (Exceptions Order) 1975 and as such it will be necessary for a submission for Disclosure to be made to the Disclosure and Barring Service (formerly known as CRB) to check for any previous criminal convictions.
Applications from job seekers who require current Skilled worker sponsorship to work in the UK are welcome and will be considered alongside all other applications. For further information visit the UK Visas and Immigration website (Opens in a new tab).
From 6 April 2017, skilled worker applicants, applying for entry clearance into the UK, have had to present a criminal record certificate from each country they have resided continuously or cumulatively for 12 months or more in the past 10 years. Adult dependants (over 18 years old) are also subject to this requirement. Guidance can be found here Criminal records checks for overseas applicants (Opens in a new tab).
UK Registration
Applicants must have current UK professional registration. For further information please see
NHS Careers website (opens in a new window).
Additional information
Disclosure and Barring Service Check
This post is subject to the Rehabilitation of Offenders Act (Exceptions Order) 1975 and as such it will be necessary for a submission for Disclosure to be made to the Disclosure and Barring Service (formerly known as CRB) to check for any previous criminal convictions.
Applications from job seekers who require current Skilled worker sponsorship to work in the UK are welcome and will be considered alongside all other applications. For further information visit the UK Visas and Immigration website (Opens in a new tab).
From 6 April 2017, skilled worker applicants, applying for entry clearance into the UK, have had to present a criminal record certificate from each country they have resided continuously or cumulatively for 12 months or more in the past 10 years. Adult dependants (over 18 years old) are also subject to this requirement. Guidance can be found here Criminal records checks for overseas applicants (Opens in a new tab).
UK Registration
Applicants must have current UK professional registration. For further information please see
NHS Careers website (opens in a new window).
