Clinical Genomics Scientist 2

Responsibilities

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

• Conducting 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)
• Reviewing medical notes and phenotyping
• Performing 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
• Problem-solving and strategizing for assessment of analytical and clinical characteristics of genetic variants
• Analyzing clinical literature and applying it to patient cases

Requirements

• Proficient in applying ACMG / AMP guidelines for interpretation and reporting of 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 the variant curation process 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 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 in a Biological Sciences field or a Master's Degree and at least 2 years of experience in a clinical laboratory setting. CO/NYC candidates might not be considered.

Target PR Range: $43.50–$54.25/hr DOE