The Lupski lab in the Department of Molecular and Human Genetics at Baylor College of Medicine is seeking a Postdoctoral Associate to join a a newly funded consortium project "BCM-GREGoR." The vision of the BCM-GREGoR research program is to translate genomic discovery and functional phenotyping to precision molecular diagnosis in the clinic whilst advancing genomics and human genetics research. We seek to advance understanding of gene function through definition of all Mendelian disease traits and cataloging of the phenotypic impact of variant alleles across all ~20,000 protein coding genes. Clinicians and diagnostic laboratories will be invaluable partners as we strive to drive this new knowledge to the "front lines" of healthcare.
- Perform array screening and breakpoint mapping of de novo CNVs in multiple de novo CNVs cases to extensively characterize breakpoint junction regions in term of their genomic architecture, and common features.
- Perform genomic studies on chromosome abnormalities including marker chromosomes and inversions.
- Analyze WES/WGS data of multiple de novo CNVs cases.
- Identify mutations in proteins that can play a role in the initiation and selection of a CNV Mutator phenotype.
- Utilize WGS data to identify mutational signatures of replicative repair mechanisms in regions of chromothripsis/ Chromoanasynthesis-like events. Once an underlying mutation and an associated SNV signature are identified, he will work on functionally studying the mechanistic pathway.
- Education Required: MD or Ph.D. in Basic Science, Health Science, or a related field.
- Experience Required: None Required.
- Prefers a candidate to have basic laboratory techniques.
- Background in genetics and genomics.
- Molecular and computational analysis background experience a plus.
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.
CA; PD; SN
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