Next Generation Sequencing in Alzheimer's Disease

Area of Science:

• Human Genetics
• Genomics
• Neurodegenerative Diseases

Background:

• Next-generation sequencing (NGS) offers unprecedented capabilities for individual genome screening at base-pair resolution.
• Identifying genetic variants contributing to complex traits and diseases like Alzheimer's disease (AD) remains a significant challenge, often referred to as the "missing heritability" problem.

Purpose of the Study:

• To review the initial findings from next-generation sequencing (NGS) based genome resequencing studies focused on Alzheimer's disease (AD).
• To discuss the implications and limitations of these novel approaches in AD genetic research.

Main Methods:

• Genome resequencing using next-generation sequencing (NGS) technologies.
• Analysis of sequence data to identify novel DNA variants and susceptibility alleles.

Main Results:

• Recent NGS studies have successfully identified rare, susceptibility-modifying alleles in genes such as APP, TREM2, and PLD3 associated with Alzheimer's disease (AD).
• These findings represent a significant advancement in understanding the genetic architecture of AD.

Conclusions:

• Next-generation sequencing (NGS) is a powerful and increasingly accessible tool for discovering novel genetic variants implicated in Alzheimer's disease (AD).
• Ongoing large-scale NGS projects are expected to yield further critical discoveries in AD genetics in the near future.