Wellcome
Trust Sanger Institute
CURRENT JOB TITLE: Senior Bioinformatician
ROLE PROFILE
REFERENCE: 145/13
GRADE: 4
REPORTS TO [JOB
TITLE]:
Vertebrate Resequencing
Informatics team leader
TEAM NO: 145
JOB FAMILY: Informatics
MANAGEMENT
RESPONSIBILITY FOR: None
ROLE PURPOSE AND
PRIMARY OBJECTIVE: To
develop a system to process, update, store, and regularly release large sets of
human variation calls across large numbers of human genomes.
CORE
ACCOUNTABILITIES [IN APPROXIMATE ORDER OF IMPORTANCE TO ROLE PURPOSE]:
To develop a system to process,
store and regularly internally release large sets of human variation calls
2. Work with human genetics
researchers to make the data available in a format that is convenient to query
and analyse
3. To document all code produced
and procedures for maintaining and operating the system developed so that other
members of the team can operate the system if required
4. Initiate and contribute to
problem-solving discussions with the team to generate novel ideas and help the
team move forward
5. Plan and carry out own work on
daily and weekly timescales
DESCRIBE THE MOST
COMPLEX/CHALLENGING ASPECTS OF THE ROLE:
Next generation sequencing
technologies are constantly evolving in terms of the type and volume of the
sequence data they produce. In the coming years, the vertebrate resequencing
informatics group will be managing some of the largest sequencing projects in
the world and therefore need to design scalable and robust informatics
solutions (data tracking, storage, and computing power). One of the most
challenging aspects of this role will be to produce high-quality scientific
data on a large scale while adapting to rapid developments in sequencing
hardware and software.
KNOWLEDGE, SKILLS
AND EXPERIENCE REQUIRED: E = ESSENTIAL D = DESIRABLE
● Significant programming
experience in one or more modern programming languages (e.g. Perl, Python, Java
etc.) (E)
● Experience of object orientated
development (E)
● A high level of communication
skills to be able to elicit complex requirements from, and convey complex
information to, groups with different levels of technical knowledge (E)
● Ability to quickly adapt to new
problems and ideas (E)
● Excellent problem-solving
skills (E)
● Some knowledge or experience in
bioinformatics (D)
● Experience with managing large
volumes of data (D)
● Experience with running
software on a compute farm or cluster (D)
● Experience with new sequencing
technology data (D)
● Relational database design and
manipulation via SQL (D)
INTERACTS WITH:
WHO
(TEAMS/PEOPLE/ORGANISATIONS)
Other group members of Vertebrate
Resequencing Informatics team
WTSI Human genetics research groups
WTSI Sequencing Production Teams
Internal/external developers of
methods and software for variant calling
PURPOSE OF THE
INTERACTION
Collaborate on design and
development of large scale genotype processing and tracking system
Schedule and announce frozen data
releases in a format suitable for researchers to access and use in their
experiments
Collaborate on accessing
sequencing data to be processed and variants catalogued in the tracking system
Maintain contact with internal and
external collaborators to keep up to date with changes and updates in
genotyping software
FOR DETAILS, PLEASE REFER
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