Genome Analyst

Company Description:

ENIGMA GENOMICS is a global leader in next-generation sequencing solutions, specialising in advanced clinical diagnostic genomics. As one of the first genetic laboratories in the Middle East and worldwide to use cutting-edge artificial intelligence to decode the human genome, the company provides personalised genetic insights into health and well-being.

Job Summary:

We are seeking a Genome Analyst to join our team virtually. This role involves analyzing genomic data, interpreting genetic test results, and preparing detailed clinical reports for healthcare providers. The ideal candidate should have a strong background in genetics, bioinformatics, genetic counseling, and genomic data interpretation.

Key Responsibilities:

• Analyze and interpret whole genome, exome, and targeted genetic test results.
• Prepare comprehensive genetic reports for healthcare providers.
• Collaborate with physicians, laboratory specialists, and healthcare professionals to support patient care decisions.
• Utilize bioinformatics tools and genetic databases to classify genetic variants.
• Stay up to date with advancements in genomics, bioinformatics tools, and variant interpretation methodologies.
• Maintain accurate documentation of genetic test interpretations and findings.

Qualifications:

• Master's degree in Human Genetics, Genetic Counseling, Bioinformatics, or a related field.
• 2-3 years of experience in genomic data analysis and variant interpretation.
• Strong analytical and problem-solving skills.
• Proficiency in genetic databases and bioinformatics tools.
• Understanding of molecular genetics and sequencing technologies.
• Experience in clinical or laboratory-based genetic analysis.
• Familiarity with genetic testing technologies and their applications.
• Knowledge of regulatory guidelines related to genetic testing.

Experience Requirements:

• Hands-on experience with NGS data analysis.
• Analyzing WES, WGS, and targeted panels data.
• Familiar with ACMG guidelines for variant classification.
• Using ClinVar, gnomAD, OMIM, or HGMD for variant interpretation.
• Phenotype-driven variant prioritization using HPO terms.
• Interpreting variants in consanguineous or recessive disease cases.