Affordable genome sequencing technologies promise to revolutionize the field of human genetics by enabling comprehensive studies that interrogate all classes of genome …
DP Wightman, IE Jansen, JE Savage, AA Shadrin… - Nature …, 2021 - nature.com
Late-onset Alzheimer's disease is a prevalent age-related polygenic disease that accounts for 50–70% of dementia cases. Currently, only a fraction of the genetic variants underlying …
Trait-associated genetic variants affect complex phenotypes primarily via regulatory mechanisms on the transcriptome. To investigate the genetics of gene expression, we …
Clonal haematopoiesis involves the expansion of certain blood cell lineages and has been associated with ageing and adverse health outcomes,,,–. Here we use exome sequence …
G Eraslan, E Drokhlyansky, S Anand, E Fiskin… - Science, 2022 - science.org
Understanding gene function and regulation in homeostasis and disease requires knowledge of the cellular and tissue contexts in which genes are expressed. Here, we …
Most signals in genome-wide association studies (GWAS) of complex traits implicate noncoding genetic variants with putative gene regulatory effects. However, currently …
The Genotype-Tissue Expression (GTEx) project was established to characterize genetic effects on the transcriptome across human tissues and to link these regulatory mechanisms …
Human brain structure changes throughout the lifespan. Altered brain growth or rates of decline are implicated in a vast range of psychiatric, developmental and neurodegenerative …
Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world- wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide …