Graphtyper enables population-scale genotyping using pangenome graphs
Sign Up to like & getrecommendations! Published in 2017 at "Nature Genetics"
DOI: 10.1038/ng.3964
Abstract: A fundamental requirement for genetic studies is an accurate determination of sequence variation. While human genome sequence diversity is increasingly well characterized, there is a need for efficient ways to use this knowledge in sequence… read more here.
Keywords: sequence; graphtyper; population scale; variation ... See more keywords
A population-scale analysis of 36 gut microbiome studies reveals universal species signatures for common diseases
Sign Up to like & getrecommendations! Published in 2024 at "NPJ Biofilms and Microbiomes"
DOI: 10.1038/s41522-024-00567-9
Abstract: The gut microbiome has been implicated in various human diseases, though findings across studies have shown considerable variability. In this study, we reanalyzed 6314 publicly available fecal metagenomes from 36 case-control studies on different diseases… read more here.
Keywords: analysis; common diseases; gut microbiome; population scale ... See more keywords
NanoPack2: population-scale evaluation of long-read sequencing data
Sign Up to like & getrecommendations! Published in 2022 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btad311
Abstract: Summary Increases in the cohort size in long-read sequencing projects necessitate more efficient software for quality assessment and processing of sequencing data from Oxford Nanopore Technologies and Pacific Biosciences. Here we describe novel tools for… read more here.
Keywords: population scale; sequencing data; nanopack2 population; scale evaluation ... See more keywords
A theoretical framework for transitioning from patient-level to population-scale epidemiological dynamics: influenza A as a case study
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the Royal Society Interface"
DOI: 10.1098/rsif.2020.0230
Abstract: Multi-scale epidemic forecasting models have been used to inform population-scale predictions with within-host models and/or infection data collected in longitudinal cohort studies. However, most multi-scale models are complex and require significant modelling expertise to run.… read more here.
Keywords: framework; multi scale; patient level; population ... See more keywords
How the epidemiology of disease-resistant and disease-tolerant varieties affects grower behaviour
Sign Up to like & getrecommendations! Published in 2022 at "Journal of the Royal Society Interface"
DOI: 10.1098/rsif.2022.0517
Abstract: Population-scale effects of resistant or tolerant crop varieties have received little consideration from epidemiologists. When growers deploy tolerant crop, population-scale disease pressures are often unaffected. This only benefits growers using tolerant varieties, selfishly decreasing yields… read more here.
Keywords: crop; tolerant crop; population scale; disease ... See more keywords
The impact of long-read sequencing on human population-scale genomics
Sign Up to like & getrecommendations! Published in 2025 at "Genome Research"
DOI: 10.1101/gr.280120.124
Abstract: Long-read sequencing technologies, particularly those from Pacific Biosciences and Oxford Nanopore Technologies, are revolutionizing genome research by providing high-resolution insights into complex and repetitive regions of the human genome that were previously inaccessible. These advances… read more here.
Keywords: long read; population scale; read sequencing;
Evaluating the cost of managing patients with cellulitis in Wales, UK: A 20-year population-scale study.
Sign Up to like & getrecommendations! Published in 2023 at "International wound journal"
DOI: 10.1111/iwj.14088
Abstract: This study aimed to estimate costs associated with managing patients with cellulitis from the UK National Health Service (NHS) perspective. The analysis was undertaken through the Secure Anonymised Information Linkage Databank, which brings together population-scale,… read more here.
Keywords: patients cellulitis; population scale; cellulitis; managing patients ... See more keywords
Priority effects within coinfected hosts can drive unexpected population‐scale patterns of parasite prevalence
Sign Up to like & getrecommendations! Published in 2018 at "Oikos"
DOI: 10.1111/oik.05937
Abstract: Organisms are frequently coinfected by multiple parasite strains and species, and interactions between parasites within hosts are known to influence parasite prevalence and diversity, as well as epidemic timing. Importantly, interactions between coinfecting parasites can… read more here.
Keywords: priority effects; priority; host; parasite prevalence ... See more keywords
Abstract 4371086: Population-scale AI Measurement of the Aorta Identifies Novel Traits Associated with Aortic Diameter
Sign Up to like & getrecommendations! Published in 2025 at "Circulation"
DOI: 10.1161/circ.152.suppl_3.4371086
Abstract: Introduction: Aortic diameter is influenced by age, sex, body surface area (BSA), and race. Studies of aortic diameter have been limited due to small sample size or focus on specific diseases such as aortic aneurysms.… read more here.
Keywords: diameter; aorta; history; population scale ... See more keywords
Population-scale Analysis Reveals Germline Loss of SERPING1 (C1-Inhibitor) is a Polyphenotypic Thrombotic Disorder.
Sign Up to like & getrecommendations! Published in 2025 at "Blood advances"
DOI: 10.1182/bloodadvances.2025017220
Abstract: Deficiency in C1 inhibitor (C1INH, SERPING1) is canonically associated with hereditary angioedema (HAE-C1INH) but not thrombosis. To determine the thrombosis risk conferred by loss of C1INH in the general population, we studied genetically-defined C1INH deficiency… read more here.
Keywords: thrombotic disorder; serping1; c1inh; polyphenotypic thrombotic ... See more keywords
Spatial chromatin architecture alteration by structural variations in human genomes at the population scale
Sign Up to like & getrecommendations! Published in 2019 at "Genome Biology"
DOI: 10.1186/s13059-019-1728-x
Abstract: BackgroundThe number of reported examples of chromatin architecture alterations involved in the regulation of gene transcription and in disease is increasing. However, no genome-wide testing has been performed to assess the abundance of these events… read more here.
Keywords: structural variations; spatial chromatin; chromatin; gene transcription ... See more keywords