Job Title: Genome Analyst
Position Overview
The Genome Variant Analyst will analyze and interpret genetic variants identified through next-generation sequencing (NGS) and other genomic technologies. This role involves close collaboration with geneticists, bioinformaticians, and clinicians to provide actionable insights for diagnostic, prognostic, and therapeutic purposes.
Key Responsibilities
- Perform in-depth analysis of genomic variants from NGS data, including single nucleotide variants (SNVs), copy number variants (CNVs), insertions/deletions (indels), and structural variants.
- Interpret variants using established guidelines, such as ACMG/AMP standards, and assess their clinical significance.
- Collaborate with genetic counselors, clinical geneticists, and laboratory teams to support variant curation and reporting.
- Maintain and update variant classification databases and ensure data quality and consistency.
- Stay current on advancements in genomics, including emerging methodologies and tools for variant analysis.
- Contribute to the development and refinement of standard operating procedures (SOPs) for variant interpretation.
- Provide insights for research and development projects related to genetic testing and precision medicine.
- Added advantage if known CNVs analysis and mitochondrial genome analysis
Qualifications
- Master's in Genetics, Molecular Biology/ Biotechnology, Bioinformatics, or a related field.
- Experience with NGS data analysis and variant interpretation, preferably in a clinical setting.
- Familiarity with databases and tools such as ClinVar, gnomAD, HGMD, and Ensembl.
- Proficiency in bioinformatics tools and pipelines for genomic data analysis.
- Strong understanding of molecular genetics and genomics, including variant classification frameworks.
- Excellent attention to detail and ability to work independently and in a team.
- Familiarity with regulatory requirements and standards in clinical genomics.
Skills: genetics,genomics,ngs,bioinformatics
