Postdoctoral Associate

Baylor College of Medicine

Houston, TX

Job posting number: #7116905 (Ref:13936-en_US)

Posted: November 29, 2022

Application Deadline: Open Until Filled

Job Description

Summary

Postdoctoral Associate will focus on further refining the Human Phenotype Ontology (HPO) based quantitative phenotyping algorithm. While this quantitative phenotyping or "Phenomics" pipeline has been used across several cohorts as part of the Baylor-Hopkins Center for Mendelian Genomics (BHCMG) and Genomics Research to Elucidate the Genetics of Rare Disease (GREGoR) Consortia, future directions for its improvement will be pursued. 

Job Duties

  • Applies this discovery approach to the Online Mendelian Inheritance in Man (OMIM) disease HPO database in order to cluster disease diagnoses by their phenotypic features, i.e. clinical synopsis of associated trait, rather than subjective clinical categorization in order to achieve a molecularly based categorization of congenital disease.
  • Uses unsolved cases and elucidates and characterizes the prevalence of multilocus pathogenic variation across multiple disease phenotypes in the research sequencing setting.
  • Builds on previous approaches to develop a widely-available, adaptable tool that determines the pairwise phenotypic similarity of large sets of diseases, genes or probands for use in quantitative analysis of exome and genome data for known and novel disease genes.

Minimum Qualifications

  • MD or Ph.D. in Basic Science, Health Science, or a related field.
  • No experience required.

 

 

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.

 13936

CA; PD; SN 



Baylor College of Medicine fosters diversity among its students, trainees, faculty and staff as a prerequisite to accomplishing our institutional mission, and setting standards for excellence in training healthcare providers and biomedical scientists, promoting scientific innovation, and providing patient-centered care. - Diversity, respect, and inclusiveness create an environment that is conducive to academic excellence, and strengthens our institution by increasing talent, encouraging creativity, and ensuring a broader perspective. - Diversity helps position Baylor to reduce disparities in health and healthcare access and to better address the needs of the community we serve. - Baylor is committed to recruiting and retaining outstanding students, trainees, faculty and staff from diverse backgrounds by providing a welcoming, supportive learning environment for all members of the Baylor community.


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