Genome Variant Analyst

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.
• 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.

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