5 дней назад
Clinical Genomic Scientist (Variant Curation)
Мэтч & Сопровод
Для мэтча с этой вакансией нужен Plus
Описание вакансии
Текст:
TL;DR
Clinical Genomic Scientist (Variant Curation) (Clinical Genomics): Analyzing clinical genetics data, curating variants and genes, and summarizing findings for clinical reports with an accent on ACMG-guided variant classification, gene-disease correlation, and clinical data interpretation. Focus on selecting variants for curation and confirmation, applying HGVS nomenclature, validating genomic technologies and software platforms, and communicating findings to laboratory directors and R&D.
Location: Remote in the United States
Company
works in clinical genomics and molecular diagnostics.
What you will do
- Curate variants, genes, and gene-disease correlations according to ACMG guidelines.
- Analyze clinical genomics data and select variants for curation or confirmation.
- Apply HGVS guidelines for variant nomenclature.
- Draft clinical reports, validate tests, refine workflows, and monitor test turnaround time.
- Present findings and collaborate with laboratory directors and R&D on genomic technologies and software platforms.
Requirements
- PhD or MD in clinical medicine, genetics, molecular biology, or an equivalent field; a master's degree with relevant experience may also be considered.
- 2–4 years of experience in clinical genomics or a related field, including postdoctoral experience.
- Thorough knowledge of ACMG variant curation guidelines and their application.
- Knowledge of genomic variation, gene-disease correlation, clinical medicine, genetics, genomics, or molecular biology.
- Experience with data quality assessment and clear communication of genetic findings.
- Proficiency in Microsoft Excel, Word, PowerPoint, and Outlook.
Nice to have
- MB(ASCP) certification.
- Experience with bioinformatics analysis, variant effect prediction algorithms, and scripting languages.
- Experience with WGS and WES case review, phenotype-driven variant selection, HPO, and clinical case interpretation.
- Experience mentoring colleagues, leading workflow improvements, and providing cross-functional clinical collaboration.
Culture & Benefits
- Remote work from a home office with regular virtual meetings.
- Occasional weekend rotation may be required, such as approximately once per month.
- Work emphasizes quality assurance, analytical problem-solving, teamwork, adaptability, and scientific communication.
- Inclusive and diverse workplace with equal employment opportunity.
Будьте осторожны: если работодатель просит войти в их систему, используя iCloud/Google, прислать код/пароль, запустить код/ПО, не делайте этого - это мошенники. Обязательно жмите "Пожаловаться" или пишите в поддержку. Подробнее в гайде →
Похожие вакансии
1 день назад
Clinical Genomics Coordinator
58 000 - 76 667$
4 дня назад
Clinical Genomic Scientist II (Genome Analyst)
110 000 - 114 000$
22 часа назад
Principal Scientist, Bioanalytical & Molecular Assays
7 часов назад
Principal Bioninformatics Scientist (NGS Oncology)
184 000 - 210 000$
3 дня назад
Genomic Data Scientist (Genomics)
55 500GBP
5 дней назад
Computational Genomics Research Scientist (Genomics)
112 000 - 168 000$