Clinical Genomic Scientist- Variant Curation

Posted 9 Days Ago
Be an Early Applicant
Hiring Remotely in United States
Remote
Mid level
Biotech
The Role
Curates variants, genes, and gene-disease correlations using ACMG guidelines; analyzes clinical genomics data; applies HGVS nomenclature; selects variants for confirmation; drafts clinical reports; supports test validation, quality assurance, workflow refinement, and laboratory collaboration. The role may also present findings, monitor turnaround times, mentor colleagues, and contribute to genomic analysis platform improvements.
Summary Generated by Built In

Job Description

Summary: 

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. 

Qualifications Skills Preferred Whole Genome Sequencing (WGS) case review Expert Whole Exome Sequencing (WES) case review Expert Clinical case analysis and interpretation Expert Clinical documentation & test requisition Expert Phenotype-driven variant selection Expert Candidate variant ID & prioritization Expert Gene–disease correlation analysis Expert Evaluation clinical relevance genetic Expert Molecular mechanisms of disease Expert Inheritance pattern analysis Expert ACMG variant classification & interpretation Expert Use of genomic analysis platforms Expert Confirmatory testing review & recs Expert Human Phenotype Ontology (HPO) familiarity Expert Cross-functional clinical collaboration Expert comm of genomic findings in team huddles Expert Clinical genomics knowledge Expert Molecular biology knowledge Expert Quality assurance and accuracy in analysis Expert Analytical and problem-solving skills Expert Scientific written and oral communication Expert Teamwork and interpersonal collaboration Expert Adaptability in a remote work environment Expert Dependability & punctuality virtual meetings Expert Microsoft Excel, Word, PowerPoint, & Outlook Expert Workflow improvement & project leadership Expert Mentorship & training of colleagues Expert Knowledge of clinical and laboratory genetics Expert Application of ACMG guidelines Expert Technical proficiency in genomic analysis Expert Equal Opportunity Employer
This employer is required to notify all applicants of their rights pursuant to federal employment laws. For further information, please review the Know Your Rights notice from the Department of Labor.

Skills Required

  • PhD or MD in clinical medicine, genetics, molecular biology, or equivalent; strong candidates with a relevant Master's degree may be considered
  • 2-4 years of experience in clinical genomics or related fields, including postdoctoral appointments
  • Thorough understanding of American College of Medical Genetics (ACMG) variant curation guidelines
  • Knowledge of genomic variation and its correlation with human disease
  • Expertise in clinical medicine, genetics, genomics, or molecular biology
  • Experience in data quality assessment and communicating genetic details effectively
  • Excellent medical-language reading and writing skills
  • Proficiency with Microsoft Excel, Word, PowerPoint, and Outlook
  • MB(ASCP) certification
  • Experience with bioinformatics analysis, variant effect prediction algorithms, and scripting languages
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The Company
HQ: Houston, TX
202 Employees
Year Founded: 1978

What We Do

Baylor Genetics is a joint venture of H.U. Group Holdings, Inc. and Baylor College of Medicine, including the #1 NIH-funded Department of Molecular and Human Genetics. Located in Houston’s Texas Medical Center, Baylor Genetics serves clients in 50 states and 16 countries.

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