Genome Analyst

12 MONTHS, FIXED TERM HINXTON (HUB-BASED, HYBRID)

About the role

Working with Clinical Scientists in the Clinical Team, you will provide analysis and interpretation of exome and genome data to support successful delivery of Congenica’s Interpretation Services. This includes variant filtering, analysis, interpretation and reporting for families referred with suspected rare genetic disease. This would be a suitable role for an individual looking to gain and expand their experience before applying to the NHS Clinical Scientist Training Programme (STP).

Please note this is a data interpretation role and does not include a significant bioinformatics component.

Location: Hybrid/remote (UK based)

What you’ll be doing

• Interpretation of next generation DNA sequencing data generated from genomes and exomes, including SNVs, indels, CNVs, structural variation and STRs
• Researching the scientific literature to identify new evidence to support genome analysis/interpretation
• Drafting patient reports for authorisation by Clinical Scientists
• Collaborating closely with Clinical Scientist team to support day-to-day operational activities outside of genome analysis

Who you are

A Genome Analyst with expertise analysing exomes and genome data to diagnose patients with germline disorders. Specifically, should have:

• Experience interpreting WGS and WES NGS data from patients with a range of suspected germline diseases
• Experience using software and/or bioinformatics packages for DNA sequence analysis and interpretation
• Experience using the ACMG and the UK’s ACGS variant interpretation frameworks
• Experience accessing, reviewing and providing detailed feedback on scientific literature, articles and publications
• Excellent communication skills
• Strong attention to detail and high levels of focus
• BSc or MSc in Genetic/Genetics related subject (2i or above)
• Maths and English language GCSE or equivalent (C grade equivalent or above)

Behavioural Qualities

• Friendly, approachable and builds positive personal and organisational relationships
• Self-motivated and results-driven, problem-solver
• Enthusiastic, hardworking, well organised and able to prioritise
• Able to work independently and with others, willing to contribute to team
• Professional appearance and able to produce high standards of work

Job Type: Fixed term contract
Contract length: 12 months

Benefits:

• Canteen
• Company events
• Company pension
• Free parking
• Life insurance
• On-site parking
• Private medical insurance
• Sick pay
• Work from home

Work authorisation:

• United Kingdom (required)

Work Location:

Hybrid remote in Hinxton, CB10 1DR

About Congenica

Congenica is a digital health company providing software and solutions for the analysis and interpretation of genomic data  of September 2025, Congenica is part of the Seqone family:  We drive Precision Medicine and help reduce the burden on healthcare systems by delivering automated analysis, diagnosis and treatment solutions to healthcare providers and patients worldwide.

Congenica was founded based on pioneering work at the Wellcome Trust Sanger Institute and the UK NHS. We have a global footprint supporting leading international laboratories, academic medical centres, hospitals and biopharmaceutical companies.