Geneti Screening for a 6bp Deletion in the Amyloid Precursor Protein (APP) Gene and Validation of Oxford Nanopore MinION Sequencer
- Authors
- Zapata Erazo, Gabriela Georgina
- Format
- MasterThesis
- Status
- publishedVersion
- Description
An optimised KASP TM custom assay was used to screen 584 late-onset Alzheimer?s disease (LOAD) samples and 528 controls samples, for a 6bp deletion (rs367709245 variant), in order to calculate the minor allele frequency (MAF) in both cohorts and determine the existence of an association between the variant and LOAD. In addition, two DNA libraries, previously genotyped as wildtype and heterozygous for the 6bp deletion, were sequenced in the novel third-generation single-molecule MinION device to test its performance when compared to Sanger sequencing for detecting the 6bp deletion. TM
- Publication Year
- 2015
- Language
- eng
- Topic
- KASP PCR
ENFERMEDAD DE ALZHEIMER?R
SCREENING GEN?TICO
GEN APP
- Repository
- Repositorio SENESCYT
- Rights
- openAccess
- License