Clinical Genomic Scientist - WGS

Posted 2 Days Ago
Be an Early Applicant
Hiring Remotely in United States
Remote
Mid level
Biotech
The Role
Perform variant and gene curation per ACMG guidelines, analyze clinical genomics/WGS data and select variants for confirmation, draft clinical reports, support test validation and process improvement, present findings, and monitor turnaround times.
Summary Generated by Built In

JOB SUMMARY 

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 Multi-gene panel & exome interp exp 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
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
  • Master's degree in relevant field with relevant experience (acceptable alternative to PhD/MD)
  • 2-4 years of variant curation experience
  • Familiarity with ACMG variant curation guidelines
  • Variant nomenclature knowledge following HGVS guidelines
  • Knowledge of genomic variation and gene-disease correlation
  • Expertise in clinical medicine, genetics, genomics, or molecular biology
  • Experience in data quality assessment and communicating genetic details
  • Excellence in reading and writing medical language
  • Proficiency in Microsoft Office (Excel, Word, PowerPoint, Outlook)
  • MB(ASCP) certification
  • Experience in bioinformatics analysis
  • Familiarity with variant effect prediction algorithms
  • Experience with 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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