Clinical Genomic Scientist - WGS

Baylor Genetics; Northern (KY); On-site; USD 110,000 - 170,000; Full time

Job summary

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

You will assist laboratory directors and R&D with validation of cutting-edge technologies and software platforms, and contribute to test turnaround time improvements and data quality.

Advanced degrees or equivalent experience are expected, with expertise in ACMG guidelines, HGVS nomenclature, and bioinformatics tools.

Qualifications

• PhD or MD in clinical medicine, genetics, molecular biology or equivalent.
• Or Master’s degree with 2-4 years of variant curation experience.
• MB(ASCP) certification is preferred.

Responsibilities

• Curation: curation of variants, genes, and gene-disease correlation following ACMG guidelines.
• Analysis: analyzing clinical genomics data, selecting variants for curation/confirmation, nomenclature per HGVS guidelines.
• Other: may involve clinical report drafting, test validation, process refinement, presenting findings, monitoring turnaround time.

Skills

Variant curation

Variant interpretation

Phenotype correlation

Data quality assessment

Clinical reporting

Cross-functional collaboration

Microsoft Office

Bioinformatics exposure

Education

PhD or MD in clinical medicine/genetics/mol biology

Master’s degree with 2-4 years variant curation experience

MB(ASCP) certification (preferred)

Tools

HGVS nomenclature knowledge

ACMG guidelines familiarity

SOPs, CAP/CLIA knowledge

Job description

The Clinical Genomics Scientist II 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.

KEY 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 and task delegation.

QUALIFICATIONS

Required

• PhD or MD in clinical medicine, genetics, molecular biology or equivalent.

Or

• Strong candidates with a Master’s degree and relevant experience.
• 2-4 years of variant curation experience.

Preferred

• MB(ASCP) certification.

COMPETENCIES

• Familiarity with 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 and writing medical language.
• Proficiency in Microsoft Office (Excel, Word, PowerPoint, Outlook).
• Desired: experience in bioinformatics analysis, variant effect prediction algorithms, and scripting languages.

PHYSICAL DEMANDS AND WORK ENVIRONMENT

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

EEO STATEMENT

Baylor Genetics is proud to be an equal opportunity employer committed to fostering an inclusive and diverse workplace. We welcome and encourage applicants from all backgrounds to apply. We do not discriminate on the basis of race, color, religion, national origin, sex, sexual orientation, gender identity, age, veteran status, disability, genetic information, pregnancy, childbirth, or any other status protected by applicable federal, state, or local law. If you need an accommodation during the application process, please contact our Human Resources team.

Qualifications

Skills

Preferred

MS in Gen Counseling or PhD in Gen/Mol Bio

Expert

Independent variant interp exp

Expert

Complex case review & phenotype correlation

Expert

Expert

Adv literature review & evidence assessment

Expert

Data quality & analytical skills

Expert

Knowl of SOPs, CAP, & CLIA standards

Expert

Discrep resol & consensus review partic

Expert

Clinical reporting & comm skills

Expert

Cross-func collab skills

Expert

Equal Opportunity Employer
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