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Phoenix Children's · 1 week ago

Clinical Genomics Scientist

Phoenix, AZ

Full-time

Onsite

Mid Level

3+ years exp

Phoenix Children's is a leading pediatric health system dedicated to providing exceptional care and advancing healthcare for children and their families. The Clinical Genomics Scientist plays a critical role in variant interpretation and classification to support clinical genomic testing, ensuring high-quality and clinically reliable genomic results while collaborating with the laboratory director and medical director.

Health CareHospital

Responsibilities

Interpret and classify genetic variants for all assays including NGS assays (WES, WGS, targeted panels); apply ACMG/AMP guidelines and prepare evidence-based summaries

Review sequencing data to identify artifacts and ensure high-confidence variant calls; maintain documentation and compliance

Support validation and launch of new NGS and bioinformatics platforms, assuring accuracy and efficiency

Collaborate with laboratory medical director(s), genetic counselor(s) to prepare and finalize clinical reports for patient care

Work with bioinformatics and technical teams to troubleshoot pipelines and optimize variant analysis performance

Contribute to curation initiatives and update panel content to enhance clinical relevance and data consistency

Participate in internal audits, proficiency testing, and ongoing QC processes to uphold CLIA/CAP standards

Train and mentor technologists, fellows, and bioinformaticians in variant interpretation and workflow best practices

Stay current on emerging genomic technologies and present findings at internal meetings or conferences

Perform miscellaneous job related duties as requested

Qualification

Clinical GenomicsVariant InterpretationNext-Generation SequencingACMG/AMP GuidelinesBioinformatics ToolsMolecular DiagnosticsGene CurationClinical ReportingAnalytical SkillsEffective Communication