Deep learning of the retina enables phenome-and genome-wide analyses of the microvasculature
Background: The microvasculature, the smallest blood vessels in the body, has key roles in
maintenance of organ health and tumorigenesis. The retinal fundus is a window for human …
maintenance of organ health and tumorigenesis. The retinal fundus is a window for human …
The genetic architecture of primary biliary cholangitis
Primary biliary cholangitis (PBC) is a rare autoimmune disease of the liver affecting the small
bile ducts. From a genetic point of view, PBC is a complex trait and several genetic and …
bile ducts. From a genetic point of view, PBC is a complex trait and several genetic and …
[HTML][HTML] A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
S Ramdas, J Judd, SE Graham, S Kanoni… - The American Journal of …, 2022 - cell.com
A major challenge of genome-wide association studies (GWASs) is to translate phenotypic
associations into biological insights. Here, we integrate a large GWAS on blood lipids …
associations into biological insights. Here, we integrate a large GWAS on blood lipids …
Whole-exome sequencing reveals a role of HTRA1 and EGFL8 in brain white matter hyperintensities
R Malik, N Beaufort, S Frerich, B Gesierich… - Brain, 2021 - academic.oup.com
White matter hyperintensities (WMH) are among the most common radiological
abnormalities in the ageing population and an established risk factor for stroke and …
abnormalities in the ageing population and an established risk factor for stroke and …
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 …
[HTML][HTML] A novel quality-control procedure to improve the accuracy of rare variant calling in SNP arrays
Background: Single-nucleotide polymorphism (SNP) arrays are an ideal technology for
genotyping genetic variants in mass screening. However, using SNP arrays to detect rare …
genotyping genetic variants in mass screening. However, using SNP arrays to detect rare …
[HTML][HTML] Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians
SM Kerr, E Cowan, L Klaric, C Bell… - European Journal of …, 2023 - nature.com
We multiply ascertained the BRCA1 pathogenic missense variant c. 5207T> C; p.
Val1736Ala (V1736A) in clinical investigation of breast and ovarian cancer families from …
Val1736Ala (V1736A) in clinical investigation of breast and ovarian cancer families from …
Assessing the contribution of rare-to-common protein-coding variants to circulating metabolic biomarker levels via 412,394 UK Biobank exome sequences
Genome-wide association studies have established the contribution of common and low
frequency variants to metabolic biomarkers in the UK Biobank (UKB); however, the role of …
frequency variants to metabolic biomarkers in the UK Biobank (UKB); however, the role of …
Rare Missense Functional Variants at COL4A1 and COL4A2 in Sporadic Intracerebral Hemorrhage
Objective To test the genetic contribution of rare missense variants in COL4A1 and COL4A2
in which common variants are genetically associated with sporadic intracerebral …
in which common variants are genetically associated with sporadic intracerebral …
Empowering rare variant burden-based gene-trait association studies via optimized computational predictor choice
Background Causal gene/trait relationships can be identified via observation of an excess
(or reduced) burden of rare variation in a given gene within humans who have that trait …
(or reduced) burden of rare variation in a given gene within humans who have that trait …