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UnknownDe novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
De novo mutations (DNMs), or mutations that appear in an individual despite not being seen in their parents, are an important source of genetic variation whose impact is relevant to studies of human evolution, genetics, and disease. Utilizing high-coverage whole-genome sequencing data as part of the...
S-EPMC7007577 | biostudies-literature
UnknownWhole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children With Asthma.

Background

Asthma is a common respiratory disorder with a highly heterogeneous nature that remains poorly understood. The objective was to use whole genome sequencing (WGS) data to identify regions of common genetic variation contributing to lung function in individuals with a diagnosis of a...
S-EPMC6904857 | biostudies-literature
UnknownCrystal structure of rhodopsin bound to arrestin by femtosecond X-ray laser.
G-protein-coupled receptors (GPCRs) signal primarily through G proteins or arrestins. Arrestin binding to GPCRs blocks G protein interaction and redirects signalling to numerous G-protein-independent pathways. Here we report the crystal structure of a constitutively active form of human rhodopsin bo...
S-EPMC4521999 | biostudies-literature
UnknownFrailty, Multimorbidity, and Polypharmacy: Exploratory Analyses of the Effects of Empagliflozin from the EMPA-KIDNEY Trial.

Background

Sodium-glucose cotransporter-2 inhibitors are recommended treatment for adults with CKD, but uncertainty exists regarding their use in patients with frailty and/or multimorbidity, among whom polypharmacy is common. We derived a multivariable logistic regression model to predict ho...
S-EPMC11390031 | biostudies-literature
UnknownInherited causes of clonal haematopoiesis in 97,691 whole genomes.
Age is the dominant risk factor for most chronic human diseases, but the mechanisms through which ageing confers this risk are largely unknown1. The age-related acquisition of somatic mutations that lead to clonal expansion in regenerating haematopoietic stem cell populations has recently...
S-EPMC7944936 | biostudies-literature
UnknownDelays in hospital admissions in patients with fractures across 18 low-income and middle-income countries (INORMUS): a prospective observational study.
Not available
S-EPMC10809849 | biostudies-literature
UnknownDiscovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry.
Although many loci have been associated with height in European ancestry populations, very few have been identified in African ancestry individuals. Furthermore, many of the known loci have yet to be generalized to and fine-mapped within a large-scale African ancestry sample. We performed sex-combin...
S-EPMC8059339 | biostudies-literature
UnknownDynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale.
Large-scale whole-genome sequencing studies have enabled the analysis of rare variants (RVs) associated with complex phenotypes. Commonly used RV association tests have limited scope to leverage variant functions. We propose STAAR (variant-set test for association using annotation information), a sc...
S-EPMC7483769 | biostudies-literature
UnknownDeep-coverage whole genome sequences and blood lipids among 16,324 individuals.
Large-scale deep-coverage whole-genome sequencing (WGS) is now feasible and offers potential advantages for locus discovery. We perform WGS in 16,324 participants from four ancestries at mean depth >29X and analyze genotypes with four quantitative traits-plasma total cholesterol, low-density lipopro...
S-EPMC6107638 | biostudies-literature
UnknownSequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.
The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of improving diagnosis, treatment and prevention of these diseases. The initial phases of the programme focused on whole...
S-EPMC7875770 | biostudies-literature
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