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. The candidate will 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. Will perform genomic studies on chromosome abnormalities including marker chromosomes and inversions. Additionally, the candidate will analyze WES/WGS data of multiple de novo CNVs cases. Will be identifying mutations in proteins that can play a role in the initiation and selection of a CNV Mutator phenotype. Will also use 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,and will work on functionally studying the mechanistic pathway. Job Duties
- Collects blood samples, make cell lines, prepare DNA for thousands of samples
- Sends for sequencing
- Analyzes functional studies and the computational analyses of ES and GS data on Egyptian kindreds.
- Examination of all data related to whole genome sequence (WGS) in patients with the multiple de novo CNV events -Work at the interface with genomics analyses of WGS/WES data with ‘wet-bench' experimental genome analyses of CNV.
- Bachelor's degree in a Basic Science or a related field.
- Two years of relevant experience.
- Master's degree in Genetics or a related field.
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.