Fahri Küçükali

Post-Doctoral Researcher

Fahri Küçükali

Science

I am a postdoctoral researcher whose main interests are identification of novel genetic variants associated with Alzheimer's disease (AD) and functional characterization of identified AD-associated variants. To this end; I am involved in projects such as targeted resequencing of complex AD risk loci, whole-exome sequencing (WES) of subjects with AD-relevant deep phenotyping data (the European Medical Information Framework for Alzheimer’s Disease Multimodal Biomarker Discovery [EMIF-AD MBD] study), and functional interpretation of genetic loci identified in AD genome-wide association studies (GWAS; the European Alzheimer & Dementia Biobank [EADB] consortium project) by integrating GWAS with molecular quantitative trait loci (QTL) such as expression and splicing QTLs and performing systematic gene prioritization to reveal highly likely candidate risk genes in each loci. For the latter, I also study complex splicing events in AD-associated loci with single-molecule long-read nanopore sequencing technology.

Keywords


  • Alzheimer's disease

  • complex genetics

  • GWAS

  • molecular QTL mapping

  • TWAS

  • RNA sequencing

  • WGS

  • WES

  • nanopore sequencing

  • targeted DNA/RNA resequencing

  • bioinformatics

  • EADB

  • EMIF

  • rare variants

  • biomarkers

  • splicing