Clinical Scientist – Rare Disease Genomics

🔥 18 hours ago

🌏 Anywhere in the World

💵 €35 - €80 / hour

⏳ Contract/Temporary

🟡 Mid-level

🟠 Senior

🧪 Clinical Research

👻 Ghost score 0%

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SeqOne

WebsiteLinkedInAll Job Openings

51 - 200 employees

Founded 2017

🏥 Healthcare

🧬 Biotechnology

🤖 Artificial Intelligence

💰 $22.6M Venture Round - SeqOne Genomics on 2025-05

Healthcare • Biotechnology • Artificial Intelligence

SeqOne is an AI-powered NGS bioinformatics company providing an all-in-one platform for molecular laboratories. The platform supports germline and somatic analyses across panels, exomes, and genomes (short- and long-read), automates end-to-end pipelines (SeqOne Flow), and delivers clinically validated interpretation (DiagAI) for oncology, inherited disease, and infectious disease workflows. SeqOne integrates with LIMS/IT systems, uses advanced pathogenicity prediction, phenotype matching, and expert-driven rules to prioritize variants, and emphasizes security and compliance (CE‑IVD Class C, ISO 13485, ISO 27001, HDS, patented double-encryption). It also offers professional and clinical interpretation services, premium annotation sources, and global lab deployments with multi-lingual support.

📋 Description

• Analyse and interpret next-generation sequencing (NGS) data, whole exome sequencing (WES), and whole genome sequencing (WGS) for rare disease diagnostics • Apply evidence-based clinical standards and guidelines to classify genetic variants • Work within an IVDR-regulated clinical interpretation platform alongside FRCPath and HCPC-registered Clinical Scientists • Collaborate with NHS and industry partners, clinicians, bioinformaticians, genomic experts and Clinical Scientists • Contribute to enhancing clinical interpretation services and platform development • Uphold quality, compliance, regulatory, governance and clinical safety standards • Support diagnostic decisions centered on patients

🎯 Requirements

• HCPC registration (or equivalent) • Hands-on experience in WES/WGS analysis and diagnostic report writing • Up-to-date working knowledge of ACMG/ACGS variant classification guidelines • Current and/or previous experience using the Congenica platform (preferred) • Experience in rare disease genomics • Ability to analyse and interpret NGS data • Ability to work within an IVDR-regulated clinical interpretation platform • Familiarity with ISO standards, clinical safety, genomic analysis, reporting and governance

🏖️ Benefits

• Fully remote and flexible working (indemnity insurance incl) • Variable hours to suit your availability - from ad hoc through to full time • The opportunity to work within an established clinical interpretation service • Flexible number of hours • Internal career development • Continuous training • Participation in scientific conferences • Competitive benefits