Postdoctoral Associate

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