Enigma Genomics
Website:
enigmagenomics.com
Job details:
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.
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