Clinical Genomics Scientist 2

Target PR Range:

43.50-54.25/hr DOE 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. Problem-solving and strategizing for assessment of analytical and clinical characteristics of genetic variants 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 in a Biological Sciences field or Masters Degree and at least 2 years experience in a clinical laboratory setting