Demonstrates expertise in interpreting and classifying genetic variants according to ACMG/AMP and ClinGen guidelines, with a strong background in genomic medicine data research and next-generation sequencing. Proficient in collaborating with laboratory professionals and maintaining variant databases while producing accurate clinical reports.

Highest-signal resume keywords

Genomic Medicine Data ResearchNext-Generation Sequencing DataACMG/AMP GuidelinesClinical Report PreparationPublic Databases Proficiency

About the role

Key responsibilities & impact

Interpret and classify genetic variants using established ACMG/AMP and ClinGen guidelines
Assess genetic evidence from scientific literature, public databases, and clinical data
Identify, interpret, and document findings from literature on gene alterations associated with human genetic disease
Interpret and analyze variants from clinical samples
Collaborate with laboratory geneticists and the Clinical Laboratory Director
Refine content and structure of clinical reports
Maintain PreventionGenetics' variant database
Prepare test reports

Requirements

What you’ll need

Bachelor's degree in Human Genetics, Molecular Genetics, Genomics, Cancer Biology, Molecular Biology or related field
2+ years of experience with genomic medicine data research, including next-generation sequencing data and public databases, tools, and resources such as NCBI, EBI, UCSC, and IGV
Excellent verbal and written communication skills
Ability to manage confidential information
Ability to solve intellectual and practical problems and comprehend abstruse concepts
Ability to work and solve problems independently
Regular and reliable attendance
Visual acuity to view computer screens
Ability to stand and/or sit for up to 50 minutes during each hour
Ability to perform essential duties with or without accommodation
Authorization to work in the United States without sponsorship
Preferred: Master's degree in a related field
Preferred: Understanding of DNA sequencing, including whole genome and exome sequencing
Preferred: Proficiency with public databases, tools, and resources

Benefits

Comp & perks

Remote, on-site, or hybrid work arrangement as agreed with the supervisor
Travel to PreventionGenetics headquarters for training may be required for remote employees
Equal opportunity employment

ATS Keywords

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Applicant Tracking System Keywords

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Hard Skills

Genetic Variant InterpretationData AnalysisClinical Sample AnalysisGene Alteration DocumentationVariant Database Maintenance

Soft Skills

Excellent Communication SkillsProblem-Solving AbilityIndependent Work Capability

Tools & Technologies

NCBIEBIUCSCIGV

Industry Keywords

Human GeneticsMolecular GeneticsGenomicsCancer BiologyMolecular Biology