Title:  Senior Bioinformatics Analyst

Division:  Molecular and Human Genetics
Schedule:  Monday - Friday, 8:00 a.m. - 5:00 p.m.
Work Location:  Houston, TX
Salary Range:  $63,151 - $76,000
FLSA Status:  Exempt
Requisition ID:  13347

Summary

The Senior Bioinformatics Analyst in the Department of Molecular & Human Genetics at Baylor College of Medicine will apply expertise in genetics, bioinformatics, and metabolism to clinical and research sequencing and variant interpretation projects, communicate with stakeholders to develop screening and testing protocols, and facilitate the development of newborn and other population screening programs. These projects are highly visible, interacting with international experts and interpreting genomic variants both from the literature and those detected in patient samples to improve clinical diagnostic testing. Working with a team, the position will review genomic variants and apply American College of Medical Genetics (ACMG/AMP) guidelines to interpret the pathogenicity of genetic variants in clinical and research samples and to curate published genome variants. The team member will work within a high-throughput system to review and interpret genomic variants and to assess variant frequencies across diverse populations to provide comprehensive data to support curation of international genomic variant databases. These data will improve knowledge and facilitate earlier and more rapid clinical diagnosis, reducing health disparities worldwide.

Job Duties

  • Analyzes and interprets clinical genomic variants according to ACMG variant interpretation guidelines
  • Ensures that annotations of variation objectives are met as required by project or supervisor
  • Uses various computational analyses and biological interpretation of results to review existing data and propose process improvements
  • Reviews functional biochemical data to support variant interpretation
  • Facilitates the development and dissemination of test procedures to stakeholders
  • Documents relevant information about genetic variants into the review interface
  • Functions as a technical writer in generating project reports and supports development of clinical reporting, validation project documents, protocol development, and other scientific documents/reports
  • Interprets results from similarity searches and from mapping variation data on genomic coordinate systems and correlates findings with data from the literature
  • Performs manual annotation on genome variation data
  • Works closely with variant review team members under supervision of the PI and project investigators
  • Maintains a clean, neat, and orderly work area
  • Maintains a pleasant and cooperative relationship with co-workers, collaborators, and external agencies
  • Complies with CAP, CLIA, HIPAA, ClinGen, and all relevant Federal, State, and local regulations, as appropriate
  • Participates in the laboratory’s quality management system
  • Prepares summary documents in collaboration with project team members
  • Interfaces collaboratively with a diverse panel of expert collaborators
  • Prepares presentation documents as required
  • Presents data at group meetings and to collaborators, as requested
  • Works collaboratively within the collaborative team to develop detailed, comprehensive protocols that may be implemented at other sites
  • Works independently and within the team to achieve the goals of the project

Minimum Qualifications

  • Bachelor's degree in Genetics, Biology, Bioinformatics, Biostatistics, Computational Biology, Computer Science, or a related field.
  • Four years of relevant experience.

Preferred Qualifications

  • Master’s degree in a related field
  • Experience with programming language, preferably R
  • Excellent written and oral communication skills
  • Skilled, functional knowledge of Microsoft Office, GraphPad, and willingness to acquire skills using other software packages
  • Willingness to learn and to work within a diverse community

 

 

Baylor College of Medicine requires employees to be fully vaccinated -subject to approved exemptions-against vaccine-preventable diseases including, but not limited to, COVID-19 and influenza.

 

Baylor College of Medicine is an Equal Opportunity/Affirmative Action/Equal Access Employer.

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