Clinical Genomics Scientist 2

Responsibilities

Analysis of Clinical Whole Genome Sequencing Data in a CLIA-certified, CAP-accredited clinical laboratory setting:

• Conduct all aspects of case analysis, interpretation and reporting for two clinical whole genome sequencing tests (TruGenome Undiagnosed Disease Test and the TruGenome Cardiovascular Disease test), including medical notes review/phenotyping, variant analysis and triaging, gene and variant curation, synthesizing and contextualizing results with respect to the patient being tested, drafting language to appear on the clinical report.
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• Problem-solving and strategizing for assessment of analytical and clinical characteristics of genetic variants
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• Analysis of clinical literature and application to patient case

Requirements

• Proficient in applying ACMG / AMP guidelines for interpretation and reporting for single nucleotide variants (SNVs), small insertions and deletions and mitochondrial DNA SNVs
• Proficient in applying the ACMG / ClinGen standards for interpretation and reporting of copy number variants (CNVs)
• Proficient in applying modifications to variant curation process as applicable and as suggested by the ClinGen Sequence Variant Interpretation Working Group and the ClinGen Variant Curation Expert Panels
• Strong understanding of clinical applications of genetic information
• Strong understanding of genotype-phenotype relationships
• Ability to analyze medical and scientific literature
• Excellent analytical and critical thinking skills
• Basic understanding of statistical analyses
• Superior written and verbal communication skills
• Basic understanding of bioinformatics approaches to clinical genome analysis
• Highly motivated, accurate and detail oriented with the proven ability to think innovatively toward solving problems effectively and efficiently
• Demonstrated experience in evaluating scientific papers, translation of genetic information and applying genetic analysis
• Ability to manage case load and deliver in a time-sensitive manner
• Ability to work effectively under pressure to meet aggressive deadlines and handle multiple activities simultaneously

Education and Experience
Requires an Advanced Degree (PhD) in a Biological Sciences field or a Master's Degree and at least 2 years experience in a clinical laboratory setting

• Case Analysis
• Experience curating and classifying genetic variants per ACMG/AMP/ClinGen standards
• Gene curation
• Genetic Testing
• Gene Variant Analysis
• Variant curation
• Whole exome sequencing analysis
• whole Genome sequencing Analysis