Approved Research

Genotyping low-copy repeats in the human genome and association with disease

Lay summary

Aims: The core objective of our research is to elucidate the intricate relationship between low-copy repeats (LCRs) within the human genome and their impact on health. LCRs are challenging to study due to their repetitive nature, but we aim to develop robust and scalable methods to comprehensively explore their association to complex phenotypes. Our primary goal is to identify genes and variants that overlap LCRs and are associated with various health conditions.

Scientific Rationale: Current genetic research methodologies encounter limitations when analyzing LCRs, despite evidence suggesting their relevance to human diseases. To address this gap, we propose the development of advanced tools for precise LCR estimation. By characterizing the genetic content and variations within LCRs, we endeavor to uncover potential links between these repetitive sequences and health-related traits.

Project Duration: The application estimates a duration of 3 years.

Public Health Impact: By deciphering the role of LCRs in human health, we contribute to a deeper understanding of the genetic underpinnings of diseases and traits. This knowledge has the potential to facilitate the development of innovative strategies for disease prevention, early diagnosis, and personalized treatment. In essence, our research represents a crucial piece of the puzzle in advancing healthcare and may pave the way for transformative improvements in public health outcomes.