Genome Variant Analyst

Position : Genome Variant Analyst Location

• Turbhe, Navi Mumbai Experience
• 1-2 years Company Website
• Who are we : HaystackAnalytics is a HealthTech company creating clinical genomics products, which enable diagnostic labs and hospitals to offer accurate and personalized diagnostics. Supported by India's most respected science agencies (DST, BIRAC, DBT), we created and launched a portfolio of products to offer genomics in infectious diseases. Our genomics based diagnostic solution for Tuberculosis was recognized as one of top innovations supported by BIRAC in the past 10 years, and was launched by the Prime Minister of India in the BIRAC Showcase event in Delhi, 2022. 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. 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.