Variant Scientist

About the role

The Variant Scientist will work under the supervision of the Clinical Geneticist to analyze and classify germline and somatic variants from genomic sequencing data. The role involves generating high‑quality clinical reports and supporting assay improvements within Biogenix Labs, M42’s Omics Center of Excellence.

Key responsibilities

• Accurately classify germline and somatic variants for Whole Genome/Whole Exome Sequencing and panel tests using in‑house software tools.
• Read, interpret, and curate scientific literature to produce clear, concise clinical reports.
• Perform critical quality‑control functions and develop SOPs for variant interpretation.
• Collaborate with bioinformaticians/IT on technology needs for new gene tests and curate variant, gene, and disease databases.

Required profile

• PhD in Cancer Genetics, Human Genetics, or Biological Sciences.
• Minimum 5 years of experience in variant interpretation and DNA sequence analysis.
• Proven ability to research variants of unknown significance and integrate multiple data sources.
• Excellent analytical, writing, and communication skills with meticulous attention to detail.

Required skills

• Next‑Generation Sequencing (NGS) technologies, Whole Genome/Exome sequencing, panel testing.
• Proficiency with databases and tools such as COSMIC, TCGA, predictive Networks, ASIAN, SEBINI, CARRIE, INSIGHT.
• Use of prediction software: PolyPhen, SIFT, Mutation Taster, ALAMUT, UCSC Genome Browser, Ensembl Genome Browser, NCBI BLAST.
• Experience with DNA sequence analysis, large genomic dataset integration, and variant curation.