Senior Genome Variant Analyst

As a Senior Genome Variant Analyst at HaystackAnalytics, you will play a crucial role in genomic data analysis and variant interpretation. Your responsibilities will include: - Performing advanced analysis of genomic variants from NGS datasets, such as SNVs, indels, CNVs, structural variants, and mitochondrial variants. - Interpreting and classifying variants using internationally accepted guidelines like ACMG/AMP to ensure clinical accuracy and relevance. - Reviewing, approving, and validating variant interpretations generated by junior genome analysts. - Assessing the clinical significance of variants to provide diagnostic, prognostic, and therapeutic insights. - Collaborating closely with clinical geneticists, genetic counselors, bioinformaticians, and laboratory teams for variant curation and report development. - Participating in clinical case discussions and providing expert input for complex or rare variant interpretations. - Communicating genomic findings clearly to clinicians and relevant stakeholders to support precision medicine and patient care decision-making. - Maintaining and updating internal variant databases and classification records to ensure data accuracy and consistency. - Contributing to the development, validation, and improvement of disease-specific or gene-specific panels. - Participating in the development, review, and refinement of SOPs related to genomic analysis and variant interpretation. - Ensuring compliance with quality control processes, laboratory standards, and regulatory requirements in clinical genomics. Additionally, as part of the role, you will be expected to: - 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. - 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 required for this role include: - PhD in Genetics, Molecular Biology, Molecular Genetics & Genomics, Bioinformatics, or a related discipline (preferred). OR Masters degree (MSc/MTech) in a related field with 5+ years of hands-on experience in clinical genome analysis. Technical expertise and skills needed for this position include: - Strong expertise in NGS data analysis and variant interpretation in a clinical genomics environment. - Experience analyzing various types of genomic variants and proficiency with genomic databases and tools such as ClinVar, gnomAD, HGMD, Ensembl, OMIM, and UCSC Genome Browser. - Strong analytical thinking, excellent written and verbal communication skills, ability to work independently, and adherence to quality and regulatory standards. Join HaystackAnalytics to be a part of a HealthTech company that is revolutionizing clinical genomics products and contributing to personalized diagnostics with a strong emphasis on innovation and scientific leadership. As a Senior Genome Variant Analyst at HaystackAnalytics, you will play a crucial role in genomic data analysis and variant interpretation. Your responsibilities will include: - Performing advanced analysis of genomic variants from NGS datasets, such as SNVs, indels, CNVs, structural variants, and mitochondrial variants. - Interpreting and classifying variants using internationally accepted guidelines like ACMG/AMP to ensure clinical accuracy and relevance. - Reviewing, approving, and validating variant interpretations generated by junior genome analysts. - Assessing the clinical significance of variants to provide diagnostic, prognostic, and therapeutic insights. - Collaborating closely with clinical geneticists, genetic counselors, bioinformaticians, and laboratory teams for variant curation and report development. - Participating in clinical case discussions and providing expert input for complex or rare variant interpretations. - Communicating genomic findings clearly to clinicians and relevant stakeholders to support precision medicine and patient care decision-making. - Maintaining and updating internal variant databases and classification records to ensure data accuracy and consistency. - Contributing to the development, validation, and improvement of disease-specific or gene-specific panels. - Participating in the development, review, and refinement of SOPs related to genomic analysis and variant interpretation. - Ensuring compliance with quality control processes, laboratory standards, and regulatory requirements in clinical genomics. Additionally, as part of the role, you will be expected to: - Stay updated with advances in genomics, variant classification frameworks, and bioinformatics tool