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Clinical Genomics Scientist I - US Remote Capable

Posted 1 day agoViewed

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💎 Seniority level: Entry, At least 2+ years

💸 Salary: 78000.0 - 120000.0 USD per year

🔍 Industry: Population genomics

🏢 Company: Helix👥 101-250💰 $50,000,000 Series C over 3 years agoPersonal HealthCryptocurrencyBiotechnologyBlockchainBig DataBioinformaticsHealth CareGeneticsFinTech

🗣️ Languages: English

⏳ Experience: At least 2+ years

Requirements:
  • MS or PhD degree with expertise in molecular genetics, human genetics, molecular pathology, or related fields.
  • At least 2+ years of experience in clinical variant classification in disease areas like Cardio, Epilepsy, Parkinson’s, and Polycystic Kidney Disease.
  • Working knowledge of ACMG/AMP Variant Classification Guidelines.
  • Familiarity with human mutation databases, genome browsers, and in-silico variant predictors.
  • Excellent technical writing skills, analytical skills, and attention to detail.
  • Ability to adjust to shifting priorities and critically assess processes.
Responsibilities:
  • Be responsible for variant and gene assessments, including researching significance in literature and clinical data.
  • Perform technical review of sequencing data from NGS and other molecular assays.
  • Troubleshoot complex cases and compile interpretive variant summaries.
  • Contribute to clinical report writing and in-house workflow development.
  • Communicate clearly with stakeholders like genetic counselors and physicians.
  • Maintain laboratory variant knowledgebase and assist with curation.
  • Perform variant classification quality controls and participate in continuing education.
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