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2 дня назад

Clinical Genomic Scientist (Curation)

Формат работы
remote (только USA)
Тип работы
fulltime
Грейд
junior
Английский
b2
Страна
US
Вакансия из списка Hirify.GlobalВакансия из Hirify Global, списка международных tech-компаний
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Описание вакансии

Текст:
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TL;DR
Clinical Genomic Scientist (Curation) (Clinical Genomics/Variant Curation): Curating clinical variants, genes, and gene-disease correlations and analyzing NGS, Sanger sequencing, metabolomics, and chromosomal microarray data with an accent on ACMG guidelines, HGVS nomenclature, and clinical reporting. Focus on evaluating genomic evidence, resolving data-quality discrepancies, supporting test validation, and escalating technically limited cases for clinical review.

Location: Remote, United States

Company

hirify.global provides clinical genetics and genomic testing services involving clinical genomics data, variant interpretation, and laboratory technologies.

What you will do

  • Curate variants, genes, and gene-disease correlations according to ACMG guidelines using internal datasets, online resources, and published literature.
  • Analyze clinical genomics data from NGS, Sanger sequencing, metabolomics, and chromosomal microarray workflows; select variants for curation or confirmation and apply HGVS nomenclature.
  • Draft clinical reports for review and document variant evidence, references, discrepancies, data-quality findings, and confirmation or repeat-analysis decisions.
  • Escalate unexpected, discrepant, incomplete, or technically limited cases to qualified supervisory or clinical personnel before final report review.
  • Support test validation, process refinement, findings presentations, test turnaround-time monitoring, and task delegation.
  • Maintain knowledge of genomic variation and its relationship to human disease while applying data-quality principles and compliance requirements.

Requirements

  • PhD or MD in clinical medicine, genetics, molecular biology, or an equivalent field; candidates with a Master's degree, relevant experience, or genetic counseling experience may also be considered.
  • 0–2 years of relevant experience in variant curation or clinical genomics; new graduates with a PhD/MD or candidates with a Master's degree and appropriate experience are acceptable.
  • Familiarity with American College of Medical Genetics and Genomics (ACMG) variant curation guidelines and knowledge of genomic variation and its relationship to human disease.
  • Expertise in clinical medicine, genetics, genomics, or molecular biology concepts.
  • Experience with data-quality assessment and communicating genetic details effectively.
  • Excellent ability to read and write medical language.
  • Proficiency in Microsoft Office, including Excel, Word, PowerPoint, and Outlook.
  • Regular attendance at virtual meetings and ability to work with screens, keyboards, and mice; occasional weekend rotation may be required, such as once a month.

Nice to have

  • Master's degree in genetic counseling or PhD in genetics or molecular biology.
  • Experience interpreting variants using ACMG/AMP guidelines.
  • Clinical genomics and clinical report-writing experience.
  • Literature review and evidence evaluation experience.
  • Familiarity with NGS workflows and sequencing data.
  • Experience with ClinVar, OMIM, gnomAD, and HGMD.
  • Knowledge of CAP/CLIA quality standards.
  • Strong organizational, data-quality, prioritization, communication, and collaboration skills.

Culture & Benefits

  • Remote work with daily huddles, clear objectives, and flexible scheduling.
  • Equal opportunity and inclusive workplace commitment.
  • Work is performed primarily through virtual meetings and screen-based analysis.

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