Job Summary

Position : Genome Variant Analyst Location - Turbhe, Navi Mumbai

Experience - 1-2 years

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.

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.

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.
- Solid 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.

Disclaimer: This job posting has been aggregated from external source. Role details, content, and availability are subject to change. Applicants are advised to confirm the latest information directly on the company website before applying.

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