Tag

Genetic Architecture

All articles tagged with #genetic architecture

Ancient genomes reveal broad directional selection across West Eurasia
science1 month ago

Ancient genomes reveal broad directional selection across West Eurasia

A new method applied to 15,836 West Eurasian ancient genomes (10,016 newly reported) finds hundreds of alleles with consistent frequency changes over the last ~10,000 years, indicating pervasive directional selection rather than just migrations. The study shows polygenic shifts affecting modern trait predictions—lower body fat and schizophrenia risk, higher cognitive performance—measured in industrialized contexts, with selection coefficients estimated across about 9.7 million variants, revealing that selection on complex traits helped shape the genetic architecture of present-day populations.

Decoding the Genetic Roots of Neurodevelopmental Disorders
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.

Unveiling Tissue-Specific Disease Contributions through Co-Regulation Modeling
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.

Genetic correlations consistent across continental ancestries in admixed individuals.
genetics3 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.