The Lupski laboratory seeks to determine the molecular mechanisms for disease using human genetic approaches to investigate clinical phenotypes. The lab is working closely with Genomics Research to Elucidate the Genetics of Rare diseases (GREGoR) consortium which is aimed to identify genetic causing of Mendelian disease through a focus on application of cutting-edge sequencing technology, e.g., long read sequencing, RNA sequencing, etc.

• Performs in-depth sequence analyses on large genomic datasets of variant calling, interpretation and annotation.
• Applies existing bioinformatics software to well-defined and novel genome analysis problems, and develops novel bioinformatics software to tackle biology questions.
• Researches, assesses, and customizes third-party bioinformatics software, for utilization in projects.

• 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.

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