Variant Scientist

About the role

The Variant Scientist will work under the supervision of a Clinical Geneticist to analyze and classify germline and somatic variants from genomic sequencing data. This position supports M42 Health’s precision‑medicine initiatives through high‑quality clinical reporting and continuous assay improvement.

Key responsibilities

• Classify germline and somatic variants for Whole Genome, Whole Exome, and targeted panel sequencing using in‑house software tools.
• Interpret scientific literature and curate findings into clear, concise clinical reports.
• Perform quality‑control checks to ensure molecular reports meet established SOPs and regulatory standards.
• Develop and maintain SOPs for variant interpretation and track variant‑scoring documentation.
• Collaborate with bioinformaticians and IT teams to define technology requirements for new gene tests.

Required profile

• PhD in Cancer Genetics, Human Genetics, or a related Biological Science.
• Minimum of five years’ experience in variant interpretation and genomic data analysis.
• Proven ability to research variants of unknown significance using literature searches and integrate multiple data sources efficiently.
• Strong analytical, writing, and communication skills with meticulous attention to detail.

Required skills

• Next‑Generation Sequencing (NGS) technologies and DNA sequence analysis.
• Variant interpretation using databases such as COSMIC, TCGA, and predictive networks.
• Use of prediction tools including PolyPhen, SIFT, MutationTaster, and ALAMUT.
• Proficiency with genome browsers: UCSC Genome Browser, Ensembl, and NCBI BLAST.
• Experience curating variants, genes, and disease relevance for clinical reporting.