data qualityngsgeneticsmolecular biologyclinvarclinical genomicshgvsvariant curationsanger sequencingacmg guidelines
Вакансия из Hirify Global, списка международных tech-компаний Для мэтча и отклика нужен Plus
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Обязанности чётко очерчены: это практическая работа с клинической геномикой в профильной биотехнологической компании, доступная специалистам в начале карьеры, но требования к высшему образованию делают вход избирательным.
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Понятные задачиМожно начать карьеруПрофильная биотехнологияДежурства по выходным
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Описание вакансии
Текст:
Hirify AI/Оригинал
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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