Job Description

Apply here: https://lnkd.in/gPQXMndD

We are seeking a Clinical Genomics Scientist who will focus on variant annotation, prioritization, and clinical interpretation of NGS data. You will work on genetic disease cases, applying ACMG/AMP guidelines, using industry-standard platforms, and preparing diagnostic reports that identify causative variants.

This role is ideal for someone with strong expertise in human genetics, clinical variant interpretation, and reporting, who wants to make a direct impact on patient care.

Role Overview
We are seeking a Clinical Genomics Scientist who will focus on variant annotation, prioritization, and clinical interpretation of NGS data. You will work on genetic disease cases, applying ACMG/AMP guidelines, using industry-standard platforms, and preparing diagnostic reports that identify causative variants.
This role is ideal for someone with strong expertise in human genetics, clinical variant interpretation, and reporting, who wants to make a direct impact on patient care.
Education
● Master’s degree or higher in Human Genetics, Medical Genetics, Molecular Biology, Genomics, Bioinformatics, or related field.
Experience
● 3+ years of hands-on experience in clinical genomics / variant interpretation.
● Prior work with rare diseases, inherited disorders, cancer genomics or clinical NGS diagnostics preferred.
● Familiarity with clinical laboratory reporting standards and regulatory requirements.

Key Responsibilities
● Interpret NGS-derived variants (SNVs, Indels, CNVs, SVs) in the context of rare diseases..
● Annotate and prioritize variants using standard tools/databases (ClinVar, OMIM, gnomAD, HGMD, dbSNP, LOVD).
● Apply ACMG/AMP guidelines for variant classification and prepare structured clinical reports.
● Collaborate closely with clinicians, laboratory staff, geneticists, and scientists to deliver accurate diagnostic results and ensure effective communication of findings.
● Demonstrate strong written and verbal communication skills for preparing clear, comprehensive clinical genomics reports that effectively convey complex genetic findings to healthcare providers.
● Document analysis, maintain case records, and contribute to knowledge sharing.
Mandatory Skills
● Strong understanding of Mendelian genetics, inheritance patterns, and molecular mechanisms of disease.
● Proven experience in variant annotation, filtering, and interpretation.
● Deep familiarity with ACMG/AMP guidelines for variant classification.
● Proficiency with genomic databases and clinical reporting standards.
● Knowledge of genomic interpretation platforms (e.g., VarSome)
● Ability to generate clear, clinician-ready reports with actionable insights.
● Excellent written and verbal communication skills for clinical report preparation and presentation of findings.
Preferred Skills
● Exposure to exome/genome sequencing data in a diagnostic laboratory or clinical genomics setup.
● Knowledge of disease genetics and precision medicine approaches.
● Familiarity with CNV/SV interpretation and multi-omics data integration.
● Understanding of ethical, regulatory, and data quality standards in clinical genomics.
● Previous experience with clinical genomics reporting
What We Offer
● Competitive salary and benefits package.
● Opportunity to work on real-world diagnostic cases in inherited diseases.
● Growth in clinical genomics and precision medicine expertise.
● Collaborative, innovative environment at the intersection of genomics and AI.

Find more details here: https://lnkd.in/gGeRr-RW