[HTML][HTML] The impact of rare protein coding genetic variation on adult cognitive function
Compelling evidence suggests that human cognitive function is strongly influenced by
genetics. Here, we conduct a large-scale exome study to examine whether rare protein …
genetics. Here, we conduct a large-scale exome study to examine whether rare protein …
[HTML][HTML] Polygenic risk alters the penetrance of monogenic kidney disease
Chronic kidney disease (CKD) is determined by an interplay of monogenic, polygenic, and
environmental risks. Autosomal dominant polycystic kidney disease (ADPKD) and COL4A …
environmental risks. Autosomal dominant polycystic kidney disease (ADPKD) and COL4A …
[HTML][HTML] Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease
O Sadeghi-Alavijeh, MMY Chan, SH Moochhala… - Kidney International, 2023 - Elsevier
Urinary stone disease (USD) is a major health burden affecting over 10% of the United
Kingdom population. While stone disease is associated with lifestyle, genetic factors also …
Kingdom population. While stone disease is associated with lifestyle, genetic factors also …
ProtVar: mapping and contextualizing human missense variation
JD Stephenson, P Totoo, DF Burke… - Nucleic Acids …, 2024 - academic.oup.com
Genomic variation can impact normal biological function in complex ways and so
understanding variant effects requires a broad range of data to be coherently assimilated …
understanding variant effects requires a broad range of data to be coherently assimilated …
[HTML][HTML] High-dimensional phenotyping to define the genetic basis of cellular morphology
The morphology of cells is dynamic and mediated by genetic and environmental factors.
Characterizing how genetic variation impacts cell morphology can provide an important link …
Characterizing how genetic variation impacts cell morphology can provide an important link …
[PDF][PDF] Gene expression and RNA splicing explain large proportions of the heritability for complex traits in cattle
Many quantitative trait loci (QTLs) are in non-coding regions. Therefore, QTLs are assumed
to affect gene regulation. Gene expression and RNA splicing are primary steps of …
to affect gene regulation. Gene expression and RNA splicing are primary steps of …
[HTML][HTML] Biobanking as a tool for genomic research: from allele frequencies to cross-ancestry association studies
TE Lazareva, YA Barbitoff, AI Changalidis… - Journal of Personalized …, 2022 - mdpi.com
In recent years, great advances have been made in the field of collection, storage, and
analysis of biological samples. Large collections of samples, biobanks, have been …
analysis of biological samples. Large collections of samples, biobanks, have been …
Systematic single-variant and gene-based association testing of thousands of phenotypes in 426,370 UK Biobank exomes
Genome-wide association studies have successfully discovered thousands of common
variants associated with human diseases and traits, but the landscape of rare variation in …
variants associated with human diseases and traits, but the landscape of rare variation in …
[PDF][PDF] Estimating the number of diseases–the concept of rare, ultra-rare, and hyper-rare
At the dawn of the personalized medicine era, the number of rare diseases has been
estimated at 10,000. By considering the influence of environmental factors together with …
estimated at 10,000. By considering the influence of environmental factors together with …
[HTML][HTML] Causal association between inflammatory bowel disease and 32 site-specific extracolonic cancers: a Mendelian randomization study
H Gao, S Zheng, X Yuan, J Xie, L Xu - BMC medicine, 2023 - Springer
Background The risk of extracolonic cancer is increased in inflammatory bowel disease
(IBD) patients, but it is not clear whether there is a causal relationship. We aimed to …
(IBD) patients, but it is not clear whether there is a causal relationship. We aimed to …