Tag

Genetic Architecture

All articles tagged with #genetic architecture

geneticsneuroscience2 years ago

Decoding the Genetic Roots of Neurodevelopmental Disorders

Researchers have identified three novel genes that contribute to neurodevelopmental disorders by impacting the spliceosome, a protein complex responsible for gene splicing. Through genomic sequencing, phenotyping, and modeling in fly and stem cells, the study revealed the malfunction of these genes in conditions such as developmental delay, intellectual disability, and autism. This breakthrough provides a deeper understanding of the genetic mechanisms behind neurodevelopmental disorders and opens up potential therapeutic targets for future treatments.

medical-research2 years ago

Unveiling Tissue-Specific Disease Contributions through Co-Regulation Modeling

A review of scientific literature on tissue-specific regulation and its role in disease etiology highlights various methods and approaches used to identify trait-relevant tissues and cell types. These include leveraging gene co-expression patterns, integrating epigenomic data, and conducting transcriptome-wide association studies. The research emphasizes the importance of understanding tissue-specific contributions to complex traits and diseases for improved diagnosis and treatment strategies.

genetics2 years ago

Genetic correlations consistent across continental ancestries in admixed individuals.

A study has found that the causal effects on complex traits are similar for common variants across segments of different continental ancestries within admixed individuals. The research used data from three large biobanks and found that the genetic architecture of complex traits is largely shared across populations, which has implications for the use of polygenic scores in diverse populations.