Position - Senior Genome Variant Analyst
Location - Navi Mumbai
Education - PhD / Masters in Genetics, Molecular Biology, Molecular Genetics & Genomics, or related fields.
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.
Key Responsibilities
Genomic Data Analysis & Variant Interpretation
- Perform advanced analysis of genomic variants from NGS datasets including SNVs, indels, CNVs, structural variants, and mitochondrial variants.
- Interpret and classify variants using ACMG/AMP and other internationally accepted guidelines, ensuring clinical accuracy and relevance.
- Review, approve, and validate variant interpretations generated by junior genome analysts.
- Assess clinical significance of variants to support diagnostic, prognostic, and therapeutic insights.
- Utilize genome browsers and annotation tools for variant evaluation and evidence gathering.
Clinical & Cross-Functional Collaboration
- Collaborate closely with clinical geneticists, genetic counselors, bioinformaticians, and laboratory teams for variant curation and report development.
- Participate in clinical case discussions and provide expert input for complex or rare variant interpretations.
- Communicate genomic findings clearly to clinicians and relevant stakeholders.
- Support interpretation that contributes to precision medicine and patient care decision-making.
Process Development & Quality Management
- Maintain and update internal variant databases and classification records, ensuring data accuracy and consistency.
- Contribute to the development, validation, and improvement of disease-specific or gene-specific panels.
- Participate in development, review, and refinement of SOPs related to genomic analysis and variant interpretation.
- Ensure compliance with quality control processes, laboratory standards, and regulatory requirements in clinical genomics.
Research, Innovation & Scientific Leadership
- Stay updated with advances in genomics, variant classification frameworks, and bioinformatics tools.
- Contribute to research and development initiatives, including new test development, pipeline improvements, and method validation.
- Participate in case reviews, scientific documentation, publications, or conference presentations when required.
- Support internal innovation and continuous improvement of genomic analysis workflows.
- Mentor and supervise junior genome analysts, trainees, and technical staff involved in variant analysis.
- Provide guidance on variant interpretation, database usage, and analysis best practices.
- Support training activities and contribute to competency development within the genomics team.
Qualifications
Education:
- PhD in Genetics, Molecular Biology, Molecular Genetics & Genomics, Bioinformatics, or a related discipline (preferred).
- OR Master's degree (MSc/MTech) in a related field with 5+ years of hands-on experience in clinical genome analysis.
Technical Expertise
- Strong expertise in NGS data analysis and variant interpretation in a clinical genomics environment.
- Experience analyzing SNVs, indels, CNVs, structural variants, and mitochondrial genome variants.
- Proficiency with genomic databases and tools such as ClinVar, gnomAD, HGMD, Ensembl, OMIM, and UCSC Genome Browser.
- Experience with bioinformatics pipelines, genome browsers, and genomic annotation tools.
- Strong understanding of molecular genetics, genomic mechanisms, and variant classification frameworks.
Skills & Competencies
- Strong analytical thinking and high attention to detail.
- Excellent written and verbal communication skills for clinical and cross-team interaction.
- Ability to work independently, take technical ownership, and guide a team.
- Strong organizational skills and adherence to quality and regulatory standards.
- Ability to contribute to research, innovation, and continuous improvement initiatives.
Skills: ngs,genomics,genomic database,variant interpretation
