Senior Genome Analyst

Biopatrika

Gurugram District

On-site

INR 1,200,000 - 1,800,000

Full time

10 days ago
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Job summary

Biopatrika, Gurugram, Haryana, India seeks a Senior Genome Analyst to perform clinical genomic data analysis, variant interpretation, and reporting for rare genetic disorders. The role emphasizes phenotype-driven work using HPO terms and family-based interpretation, with guidance aligned to ACMG/ClinGen standards.

Collaborative reporting to clinicians is required. The ideal candidate will have hands-on experience with WES, WGS, and trio/couple analyses, and a strong background in inheritance

Qualifications

  • Hands-on experience with clinical genomic data analysis and reporting.
  • Experience with phenotype-driven analysis using HPO terms.
  • Strong knowledge of ACMG guidelines and ClinGen recommendations.
  • Experience with inheritance patterns and family history.
  • Ability to interpret variants based on clinical indication.
  • Experience with family segregation analysis.
  • Familiarity with population frequency databases.
  • Candidates with only bioinformatics pipeline work are less preferred.

Responsibilities

  • Perform clinical genomic data analysis, variant interpretation and reporting for rare disorders.
  • Conduct family segregation analysis and inheritance pattern evaluation.
  • Interpret variants based on clinical indication, phenotype and family history.
  • Apply ACMG guidelines and disease-specific specifications in reports.

Skills

WES
CES
WGS
Trio analysis
Carrier analysis
Singleton analysis
Genomic variant interpretation
Clinical reporting
HPO terms
Inheritance pattern
Family segregation analysis
ACMG guidelines
ClinGen recommendations
Population frequency databases

Job description

# Senior Genome AnalystJobHaryana, IndiaOctober 1, 2026Full Time### Job Overview* Date Posted October 1, 2026* Location Haryana, India* Expiration date October 31, 2026* Click to apply: https://www.linkedin.com/posts/sapna-priyadarshni-87114a119\\_hiring-genomeanalyst-seniorgenomeanalyst-share-7510965189551308800-fe33/### Job DescriptionWe’re Hiring: Senior Genome Analyst Location: Gurugram Experience: 2–3 years Domain: Clinical Genomics / Genetic Diagnostics We are looking for an experienced and clinically oriented Senior Genome Analyst with 2–3 years of hands-on experience in clinical genomic data analysis, variant interpretation, and reporting, particularly in rare disorders and inherited genetic diseases. Key Requirements: • Hands-on experience with WES, CES, WGS, Trio, Couple/Carrier and Singleton analysis •Strong understanding of clinical variant interpretation and reporting • Experience in phenotype-driven analysis using HPO terms • Ability to interpret variants based on clinical indication, phenotype, inheritance pattern, and family history • Experience with family segregation analysis • Strong knowledge of ACMG guidelines, ClinGen recommendations, disease-specific specifications, gene/disease evidence, and population frequency databases Important: Candidates whose experience is predominantly in bioinformatics pipeline development, NGS data processing, or research genomics, without substantial experience in clinical variant interpretation and reporting, will not be preferred. If you have relevant experience and are interested in building your career in clinical genomics, we’d love to hear from you. Interested candidates can share their CV at: sapna.priyadarshni@corediagnostics.in
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