Variant Scientist

About M42 Health and Biogenix Labs

M42 Health offers a wide range of healthcare solutions spanning from primary care to specialty treatments, using state-of-the-art health technologies and precision medicine to maximize patient outcomes. Operating over 480 facilities across 27 countries and supported by more than 20,000 professionals worldwide, M42 Health is at the forefront of global healthcare transformation.

Biogenix Labs, a specialized center within M42, pursues excellence in Omics technologies, focusing on Next-Generation Sequencing (NGS) and multi-omics to provide insightful data on human health and disease mechanisms. This lab supports scientific innovation and the UAE's leadership in personalized medicine as part of M42's Integrated Health Solutions.

Role Summary

The Variant Scientist will collaborate closely with the Clinical Geneticist to scrutinize and classify germline and somatic genomic variants using proprietary software and scientific literature to produce precise clinical reports.

Primary Duties

• Precisely categorize variants from Whole Genome, Whole Exome, and panel sequencing tests.
• Employ proprietary software tools for molecular clinical data analysis.
• Interpret and synthesize scientific publications, presenting findings clearly and accurately.
• Compile genetic test outcomes into comprehensive clinical reports.
• Execute strict quality control measures aligned with quality management systems and SOPs.
• Assist in enhancing existing assays and laboratory protocols.
• Maintain curated databases of genetic variants, genes, and disease correlations.
• Mentor junior staff members as required.
• Develop and update SOPs related to variant interpretation and maintain variant scoring documentation.
• Coordinate with bioinformatics and IT teams to support new genetic testing technologies.

Required Qualifications and Expertise

• PhD in Cancer Genetics, Human Genetics, or related Biological Sciences field.
• At least 2 to 3 years of hands-on experience in variant interpretation.
• Competency in researching variants of uncertain significance through comprehensive literature review and data integration.
• Familiarity with genetic databases and tools such as COSMIC, TCGA, ASIAN, SEBINI, CARRIE, INSIGHT, and predictive software including PolyPhen, SIFT, MutationTaster, ALAMUT, UCSC Genome Browser, Ensembl Genome Browser, NCBI BLAST.
• Experience running DNA sequence and next-generation sequencing analyses and utilizing online genomic databases to derive actionable clinical insights.
• Strong analytical capability.
• Excellent written and verbal communication skills, with strong organizational attention and precision.
• Understanding of experimental techniques, data analysis, and interpretation applicable to both focused gene studies and large-scale assays.
• Knowledge of handling large genomic datasets and integrating multi-layer data including protein-genetic interactions, regulatory elements across DNA, RNA, protein, polymorphisms, phenotype measurements, and drug interaction data.