Senior Bioinformatician - Human Genomics

We are seeking a highly motivated senior bioinformatician with experience in handling large genomic sequencing datasets to join the Martin group and the Human Genetics Informatics (HGI) at the Wellcome Sanger Institute. This is part of an academic-industry collaboration focused on the Genes & Health study, a large population-based cohort of British South Asians. The work includes pre-processing whole exome sequencing data, annotating and curating rare variants, and assisting with research analyses. The post holder will have an opportunity to undertake their own research projects using the data, either independently or as part of the collaborative groups’ work.

About the groups

The Human Genetics Informatics (HGI) team, led by Dr. Vivek Iyer, is responsible for processing large human genetic datasets prior to analysis by faculty groups. In close collaboration with the faculty groups, they evaluate and implement the best methods to process and absorb the huge amounts of sequencing data produced at Sanger. HGI group members come from a range of academic/professional backgrounds including IT, bioinformatics, genetics and physics.

The Martin group, led by Dr. Hilary Martin, investigates the genetic basis of rare and common diseases, as well as population genetic processes that influence the distribution of genetic variation. We currently have projects in the following areas:

· Population genetics and the genetic basis of complex diseases and traits in British South Asian populations, using data from the Genes & Health project (N>50,000 British Pakistani and Bangladeshi individuals with electronic health record data, for whom we will be generating exome sequence data).

· The role of both rare and common variants in rare disorders, using data from the Deciphering Developmental Disorders study (N=13,000 exome-sequenced patients) and the Genomics England 100,000 Genomes project (N~33,000 whole-genome sequenced rare disease patients)

· The genetics of cognitive and behavioural traits, using sequence and genotype data from UK Biobank and from large UK birth cohorts, the Avon Longitudinal Study of Parents and Children , the Millenium Cohort Study, and Born in Bradford (N>25,000)

About the role

You will be responsible for carrying out variant calling and quality control on exome-sequence data from at least 50,000 individuals from the Genes & Health project. High parental relatedness (consanguinity) in this cohort increases the probability of an individual inheriting two copies of the same rare loss-of-function variant. These so-called “human knockouts” can help identify and/or validate new drug targets. You will identify and apply state-of-the-art methods for variant calling, quality control and variant annotation, as well as curate loss-of-function variants in collaboration with Daniel MacArthur’s group in Sydney. You will also collaborate with researchers at Queen Mary University London and Kings’ College London, as well as industry partners. You will assist with submitting data to gnomAD. You will work with HGI on the Google-cloud based trusted research environment (TRE) which has been purpose-built for the Genes & Health project and build WDL pipelines.

You will be expected to take a collaborative approach to research and to take a full and active role in discussions, contributing both ideas and expertise as necessary. In addition to the Genes & Health TRE, you will have access to Sanger's world-class computational resources, including a 15000+ core computational cluster, an OpenStack private cloud environment, and many petabytes of high-speed distributed file systems and object stores.

Essential Skills
Technical Skills:

Advanced degree (MSc or PhD) in a quantitative field (e.g. computer science, bioinformatics, etc) or equivalent research experience
Understanding of Linux-based operating systems, libraries and tools
Ability to learn quickly to deploy new software and build it into pipelines
Experience with Git and GitHub or other reproducible research tools
Experience analysing high-throughput DNA sequencing data
Understanding of the key principles of genetics
Competencies and Behaviours:

Enthusiasm and commitment
Attention to detail
Strong problem-solving skills
Ability to collaborate effectively with other scientists in the group and externally
Ability to communicate ideas and results effectively both verbally and in writing
Ability to prioritise, work independently and organise own workload
Ability to meet deadlines
Other information
Please apply with your CV and a cover letter outlining your suitability for the role using the criteria set out above and in the job description.

For informal queries, please contact Vivek Iyer.

Interviews will be taking place virtually in early 2022.