Wild populations are increasingly threatened by human-mediated climate change and land use changes. As populations decline, the probability of inbreeding increases, along with the potential for negative effects on individual fitness. Detecting and characterizing runs of homozygosity (ROHs) is a popular strategy for assessing the extent of individual inbreeding present in a population and can also shed light on the genetic mechanisms contributing to inbreeding depression. Here, we analyze simulated and empirical datasets to demonstrate the downstream effects of program selection and long-term demographic history on ROH inference, leading to context-dependent biases in the results. Through a sensitivity analysis we evaluate how various parameter values impact ROH-calling results, highlighting its utility as a tool for parameter exploration. Our results indicate that ROH inferences are sensitive to factors such as sequencing depth and ROH length distribution, with bias direction and magnitude varying with demographic history and the programs used. Estimation biases are particularly pronounced at lower sequencing depths, potentially leading to either underestimation or overestimation of inbreeding. These results are particularly important for the management of endangered species, as underestimating inbreeding signals in the genome can substantially undermine conservation initiatives. We also found that small true ROHs can be incorrectly lumped together and called as longer ROHs, leading to erroneous inference of recent inbreeding. To address these challenges, we suggest using a combination of ROH detection tools and ROH length-specific inferences, along with sensitivity analysis, to generate robust and context-appropriate population inferences regarding inbreeding history. We outline these recommendations for ROH estimation at multiple levels of sequencing effort, which are typical of conservation genomics studies.
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http://dx.doi.org/10.1371/journal.pcbi.1012566 | DOI Listing |
Front Immunol
December 2024
Department of Rheumatology and Clinical Immunology, Clinic of Internal Medicine III, University Hospital Bonn, Bonn, Germany.
Objectives: This study aimed to evaluate the diagnostic utility of [Ga]Ga-DOTA-Siglec-9 positron emission tomography-computed tomography (PET/CT) in assessing disease activity in a patient experiencing a relapse of giant cell arteritis (GCA).
Case Presentation: A 90-year-old male patient with GCA, diagnosed in 2018, was enrolled. Demographic data, disease history, and laboratory parameters, including soluble VAP-1 (sVAP-1) levels, were recorded.
Genome Biol Evol
January 2025
Faculty of Information Science and Technology, Hokkaido University, Kita-14, Nishi-9, Kita-ku, Sapporo, Hokkaido, Japan 060-0814.
The influence of long-term climatic changes such as glacial cycles on the history of living organisms has been a subject of research for decades, but the detailed population dynamics during the environmental fluctuations and their effects on genetic diversity and genetic load are not well understood on a genome-wide scale. The Japanese macaque (Macaca fuscata) is a unique primate adapted to the cold environments of the Japanese archipelago. Despite of the past intensive research for the Japanese macaque population genetics, the genetic background of Japanese macaques at the whole-genome level has been limited to a few individuals, and the comprehensive demographic history and genetic differentiation of Japanese macaques have been underexplored.
View Article and Find Full Text PDFArch Esp Urol
December 2024
Obstetrics and Gynecology Department, Anhui Wannan Rehabilitation Hospital (The Fifth People's Hospital of Wuhu), 241000 Wuhu, Anhui, China.
Background: Urinary tract stones present significant health risks to pregnant women and their foetuses. However, the specific risk factors contributing to stone formation during pregnancy, particularly within the Chinese population, remain poorly understood. This retrospective survey aimed to identify demographic, clinical, and obstetric risk factors associated with urinary tract stones in pregnant women at a tertiary hospital in China.
View Article and Find Full Text PDFPsychogeriatrics
January 2025
Kastamonu Training and Research Hospital, Division of Rheumatology, University of Health Sciences, Kastamonu, Turkey.
Purpose: This study aims to compare the prevalence of depression and related geriatric syndromes in earlier-onset rheumatoid arthritis (EORA) patients, who have experienced prolonged inflammation and medication use, with those with late-onset rheumatoid arthritis (LORA) patients, who often present with an acute and severe course.
Methods: In this multidisciplinary study, patients with EORA and LORA aged 60 and over who were referred to a tertiary rheumatology clinic underwent a geronto-rheumatologic evaluation. Muscle mass and handgrip strength, cognitive function, nutritional status, Fried frailty index, fall history, gait speed, depression according to Geriatric Depression Scale and Insomnia Severity Index were recorded.
Genome Biol
January 2025
Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.
Background: Genetic variation in the non-recombining part of the human Y chromosome has provided important insight into the paternal history of human populations. However, a significant and yet unexplained branch length variation of Y chromosome lineages has been observed, notably amongst those that are highly diverged from the human reference Y chromosome. Understanding the origin of this variation, which has previously been attributed to changes in generation time, mutation rate, or efficacy of selection, is important for accurately reconstructing human evolutionary and demographic history.
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