Characterization and validation of genetic markers associated with Alzheimer’s disease (AD) and Age-related Macular Degeneration (AMD)
Whole Exome Sequencing project on approximatively 3300 African-American samples on Illumina instrument. o In charge of samples selection and allocation from Biorepository, quality control, quantitation.
RNA sequencing on 500 cases and controls AD Caucasian and African American samples. In charge of RNA extraction from PAXgene blood tubes using Qiagen automated instrument (QIAsymphony), samples quality control with Nanodrop, Agilent, Bioanalyzer and Tapestation.
Genotype significant variants found through whole exome sequencing in collaborator cohort within large African American dataset to look for replication
Validation of whole genome association study data
Comparison of results within and between dataset, submission to database