Clinical Genomic Scientist- Variant Curation

Baylor Genetics; United States; Presencial; USD 90 000 - 150 000; Tempo integral

Resumo da oferta

Baylor Genetics seeks a Clinical Genomics Scientist to analyze clinical genetics data, curate variants, and summarize findings for clinical reports.

You will collaborate with laboratory directors and R&D on validation of technologies and software platforms.

Qualificações

• PhD or MD in clinical medicine, genetics, molecular biology, or equivalent.
• 2–4 years in clinical genomics or related fields (including postdocs).
• Thorough understanding of ACMG variant curation guidelines.
• Knowledge of genomic variation and its relation to human disease.
• Experience in data quality assessment and communicating genetic details clearly.
• Proficiency in Microsoft Office (Excel, Word, PowerPoint).
• Desirable MB(ASCP) certification.

Responsabilidades

• Curation of variants, genes, and gene-disease correlations following ACMG guidelines.
• Analysis of clinical genomics data and variant nomenclature following HGVS guidelines.
• May assist in clinical report drafting, test validation, and process refinement.

Conhecimentos

ACMG variant curation

HGVS nomenclature

Bioinformatics basics

Microsoft Office

Communication of genetic data

Formação académica

PhD or MD in clinical medicine/genetics/molecular biology

Master’s degree with relevant experience (MB(ASCP) desired)

Ferramentas

Scripting languages (Python, R)

Bioinformatics tools

Descrição da oferta de emprego

Summary

Job Description

The “Clinical Genomics Scientist” analyzes clinical genetics data, curates variants and genes, and summarizes findings for clinical reports. Our scientists assist laboratory directors and R&D with validation of cutting-edge technologies and software platforms.

Duties And Responsibilities

• Curation (50%): curation of variants, genes, and gene-disease correlation following ACMG guidelines


• Analysis (30%): analyzing clinical genomics data, selecting variants for curation/confirmation, variant nomenclature following HGVS guidelines


• Other (20%): may involve clinical report drafting, test validation, process refinement, presenting findings, monitoring test turnaround time

Qualifications/Experience

• Degree: PhD or MD in clinical medicine, genetics, molecular biology, or equivalent. Or strong candidates with a Master’s degree and relevant experience. Desired: MB(ASCP) certification.


• 2-4 years of experience in clinical genomics or related fields (including postdoctoral appointments)


• Thorough understanding of the American College of Medical Genetics (ACMG) variant curation guidelines.


• Knowledge of genomic variation and its correlation with human disease.


• Expertise in concepts of clinical medicine, genetics, genomics, or molecular biology.


• Experience in data quality assessment and communicating genetic details effectively.


• Excellence in reading/writing medical language.


• Proficiency in Microsoft Office (Excel, Word, PowerPoint, Outlook).


• Desired: experience in bioinformatics analysis, variant effect prediction algorithms, and scripting languages

Competencies

Quality Assurance, Analytical, Problem Solving, Technical Skills, Interpersonal Skills, Oral and Written Communication, Teamwork, Organizational Support, Safety and Security, Dependability, Innovation, Adaptability.

Physical Demands And Work Environment

• At your Home Office:
  
  
  
  • Frequently required to sit, using screen, keyboard, and mouse.
  
  
  • Punctuality attending virtual meetings
  
  
  • Occasional weekend rotation may be needed (for example, once a month)
  
  
  
  

Physical Demands And Work Environment

• Frequently required to sit.


• Frequently required to utilize hand and finger dexterity.


• Frequently required to talk or hear.

EEO Statement

Baylor Genetics is proud to be an equal opportunity employer dedicated to building an inclusive and diverse workforce. We do not discriminate based on race, religion, color, national origin, sex, sexual orientation, age, gender identity, veteran status, disability, genetic information, pregnancy, childbirth, or related medical conditions, or any other status protected under applicable federal, state, or local law.