Bioinformatician/Staff Scientist in Medical Genomics

Saffron Walden, United Kingdom

We are seeking a highly motivated and creative bioinformatician or staff scientist to join the Martin group at the Wellcome Sanger Institute for a 1-year fixed-term contract (maternity cover). The group uses large-scale genetic and phenotypic data to investigate the genetic architecture of rare and common diseases and complex traits.

You will have the opportunity to contribute to projects using data from the following studies:

• Birth cohorts: The Avon Longitudinal Study of Parents and Children, the Millenium Cohort Study, Born in Bradford, and the Norwegian Mother and Child Study. These cohorts include rich phenotypic data across a wide range of traits and genotype-chip data. We are generating exome-sequence data on ~60K children and a subset of their parents. Current and future projects seek to investigate the contribution of both common and rare variants to traits related to early growth (e.g. birthweight and premature birth), and cognitive and behavioural outcomes (eg. Malawsky et al., accepted in principle at Nat. Hum. Behav; Wootton et al., medRxiv).
• Clinical rare disease cohorts: Genomics England’s 100,000 Genomes project and Genomic Medicine Service (~52,000 whole-genome sequenced rare disease patients), the Deciphering Developmental Disorders study (13,000 exome-sequenced patients with rare, severe paediatric disorders), and >100k patients from the GeneDx cohort. Current projects use these data to study role of rare and common variants in rare developmental disorders and other phenotypes related to neurodevelopment (e.g. extensions of Chundru et al., Nature Genetics, 2024; Samocha et al., medRxiv, 2024; Huang et al., Nature 2024; Wootton et al., Genome Med 2025).

The group is also planning new multi-omic projects in reproductive genomics, fetal medicine, and neonatology. You may have the opportunity to contribute to these projects as they develop. These may involve methods development to enable the use of cell free DNA for studying fetal genetics noninvasively, and proteomic analyses of neonatal blood spots for risk stratification of serious neonatal conditions. The staff scientist may also be asked to assist with the set-up of new studies, including writing proposals and ethics applications.

Essential Skills:

• Creativity and original scientific ideas
• Enthusiasm and commitment
• Attention to detail
• Strong problem-solving skills
• Ability to communicate ideas and results effectively both verbally and in writing
• Ability to prioritise, work independently and organise own workload
• Ability to collaborate effectively with other scientists in the group and externally

Additional skills for Staff Scientist:

• Postdoctoral experience and PhD in a relevant area (genetics, genomics, bioinformatics)
• Experience analysing large-scale human genetic and/or other omic (e.g. proteomic) data
• Full working proficiency in R and/or Python/Perl and Unix/Linux
• Knowledge of the literature on genetics of rare disease and/or complex traits and/or cell free DNA and/or reproductive/fetal/neonatal medicine
• Knowledge of statistical methods appropriate for large-scale genetic research
• Experience supervising students or junior colleagues
• Strong publishing record

Additional Skills for Bioinformatician:

• Proficiency in Python or R
• Ability to learn quickly to deploy new software and build it into pipelines
• Experience analysing large-scale genetic data and/or other omics data (e.g. proteomics, metabolomics, transcriptomics)
• Understanding of the key principles of genetics

Other Information: For further details, please see the Staff Scientist and Bioinformatician job descriptions.

Salary per annum (dependent upon skills and experience):

Bioinformatician - £36,924-43,867 per annum
Staff Scientist - £44,890-£53,331 per annum

Application Process:

Please apply with your CV and a Cover letter outlining how you meet the criteria set out above.

Interviews will be held in April 2026, and we are ideally seeking a candidate to start in May 2026. Prospective candidates are welcome to contact Hilary Martin hcm@sanger.ac.uk or Olivia Wootton ow3@sanger.ac.uk for informal queries.

Closing Date: 24 March 2026

Hybrid Working at Wellcome Sanger: We recognise that there are many benefits to Hybrid Working...