Bioinformatics, Human Genetics Scientist Jobs at Progenics Laboratories Pvt. Ltd., Apply on Biotecnika

Bioinformatics Scientist Job Openings at Progenics Laboratories Pvt. Ltd., Apply on Biotecnika

Job Role: Scientist – Clinical & Preventive Genomics

Company: Progenics Laboratories Pvt. Ltd.

Location: Hyderabad

Experience: 0.6–1 year (6-month internship preferred)

Salary Range: 4.8 LPA

Position Overview

Progenics Laboratories Pvt. Ltd. is seeking a motivated and technically strong Scientist –
Clinical & Preventive Genomics with expertise in human genetics, clinical genomics, and
bioinformatics. The role involves end-to-end genomic data analysis, advanced variant
interpretation, phenotype–genotype correlation, and population-level preventive risk
assessment.

This position goes beyond routine genome analysis, combining rigorous bioinformatics,
clinical interpretation, and preventive genomics to deliver clinically actionable insights.

Key Responsibilities

1. Genomic Data Analysis & Bioinformatics

• Perform NGS data analysis ensuring high quality and accuracy of variant calls
(FASTQ → BAM → VCF).
• Develop, maintain, and optimize bioinformatics pipelines using Python, R, and
Linux-based tools.
• Handle WES/WGS clinical datasets and ensure robust QC metrics.
• Review annotated variants including SNVs, indels, CNVs, and structural variants.
• Automate analysis and reporting workflows where applicable.

2. Advanced Variant Interpretation & Clinical Correlation

• Classify variants according to ACMG/AMP guidelines with strong evidence-based
justification.
• Establish genotype–phenotype correlations using HPO terms and detailed clinical
information.
• Interpret rare and complex variants using ClinVar, HGMD, OMIM, gnomAD, and
peer-reviewed literature.
• Evaluate gene–disease validity, inheritance patterns, and penetrance.
• Clearly distinguish pathogenic, likely pathogenic, VUS, and benign variants with
scientific rationale.

3. Population & Preventive Genomics

• Analyze population allele frequency data and ethnicity-specific variant relevance.
• Interpret disease-associated SNPs and polygenic risk scores (PRS).
• Contribute to preventive risk stratification models for:
o Cardiometabolic disorders
o Cancer predisposition
o Neurological conditions
o Lifestyle and wellness traits
• Assess pharmacogenomic and nutrigenomic markers for clinical relevance.

4. Reporting & Scientific Leadership

• Prepare clear, concise, and clinically actionable genomic reports.
• Highlight medically actionable findings and provide follow-up or referral
recommendations.
• Participate in clinician interactions, case discussions, and multidisciplinary reviews.
• Support development and validation of genomic panels and interpretation
frameworks.
• Ensure compliance with NABL / CAP / CLIA standards and documentation
practices.
• Mentor junior analysts and interns in genomic interpretation and bioinformatics
workflows.

Qualifications

• Msc or Ph.D. in Human Genetics, Medical Genetics, Genomics, Molecular Biology,
Bioinformatics, or a related discipline.
• Hands-on experience (including internships or fellowships) in clinical or
translational genomics.
• Strong foundation in human disease genetics and population genomics.

Technical & Domain Expertise

• Proficiency in NGS workflows and clinical genomics data analysis.
• Strong programming skills in Python and R for genomic analysis and pipeline
development.
• Experience working in Linux/Unix environments.
• In-depth knowledge of ACMG variant classification and clinical genomics
databases.
• Expertise in genotype–phenotype correlation using HPO.
• Understanding of population genetics and allele frequency interpretation.

Preferred Qualifications

• Experience with PRS, pharmacogenomics, and nutrigenomics.
• Exposure to clinical diagnostic laboratory environments.
• Familiarity with NABL, CAP, or CLIA regulatory frameworks.
• Peer-reviewed scientific publications.

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