98%
921
2 minutes
20
Missing pedigrees are a common problem in most populations. Animals with unknown ancestors are usually treated as founders; however, this can underestimate inbreeding, not properly account for different base populations, and bias breeding values. We aimed to assess the use of unknown parent groups (UPG) or metafounders (MF) to model missing pedigrees in a beef cattle population. Phenotypic and genotypic data from the Nellore improvement programme of the Brazilian Breeders and Researchers Association were used. The pedigree contained 3.8 M animals born between 1970 and 2022, of which 51,752 were genotyped. Records for scrotal circumference at 365 days old (SC365, N = 239,806), age at first calving (AFC, N = 560,785) and accumulated cow productivity (ACP, N = 269,330) were used. Four models were implemented: single-step GBLUP without explicitly dealing with missing pedigree (G0), with UPG (G1), with MF (G2) and with accounting for group-specific allele frequencies (G3). UPG and MF were assigned based on commercial and registered herds (S1), uncertain paternity (S2) and patriarchs (S3). The accuracy and bias of predictions were assessed using the linear regression (LR) method. Linear, single-trait animal models were used for SC365 and AFC, and multi-trait for ACP. Heritability estimates ranged from 0.07 to 0.40. Compared to G0, accuracy was slightly higher in G2 and G2 (0.70 vs. 0.71) for SC365, G2 (0.49 vs. 0.51) for AFC, G1 for ACP (0.67 vs. 0.71). Bias was small in all the scenarios (≤ 0.06 SD), except of ACP that presented a great bias, including MF. Overall, G1 and G2 had similar accuracy, possibly because of the limited number of genotyped animals linked to MF. Centring the genomic relationship matrix by patriarchs' allelic frequencies resulted in similar accuracy and bias to the MF models. Replicating the study with a larger database containing more genotyped animals connected to MF could help improve the MF estimates, and thus, prediction accuracy and bias.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1111/jbg.12947 | DOI Listing |
J Appl Oral Sci
September 2025
Universidade Federal de Minas Gerais, Instituto de Ciências Biológicas, Departamento de Genética, Ecologia e Evolução, Belo Horizonte, MG, Brasil.
Background: Amelogenesis imperfecta (AI) encompasses a group of conditions characterized by abnormalities in the development or function of tooth enamel. Clinical manifestations include different forms and degrees of enamel frailty, associated with sensitivity, tooth fractures, stains, abnormal tooth morphology, missing teeth, etc. AI is genetically heterogeneous, with over 70 genes associated with autosomal dominant, autosomal recessive, X-linked, and oligogenic inheritance.
View Article and Find Full Text PDFJ Cereb Blood Flow Metab
August 2025
Glenn Biggs Institute for Alzheimer's & Neurodegenerative Diseases, University of Texas Health Sciences Center at San Antonio, San Antonio, Texas, USA.
Cerebral small vessel disease (cSVD) is a major contributor to stroke, dementia, and cognitive decline. Despite significant progress through large-scale genome-wide association studies (GWAS) for cSVD and stroke, the genetic architecture underlying these conditions remains poorly understood. This review highlights recent advancements in statistical tools and provides a comprehensive overview of current insights into the genetic underpinnings of cSVD and stroke.
View Article and Find Full Text PDFBioinform Adv
July 2025
Department of Biostatistics Harvard T.H. Chan School of Public Health, Boston, MA 02115, United States.
Motivation: Reliable tools and software for penetrance (age-specific risk among those who carry a genetic variant) estimation are critical to improving clinical decision making and risk assessment for hereditary syndromes. However, there is a lack of easily usable software for penetrance estimation in family-based studies that implements a Bayesian estimation approach.
Results: We introduce , an open-source R package available on CRAN, to estimate age-specific penetrance using family-history pedigree data.
Behav Genet
July 2025
Wake Forest University, Winston-Salem, USA.
Mitochondrial DNA (mtDNA) plays a crucial role in numerous cellular processes, yet its impact on human complex behavior remains underexplored. The current paper proposes a novel covariance structure model with seven parameters to specifically isolate and quantify mtDNA effects on human complex traits. This approach uses extended pedigrees to obtain estimates of mtDNA variance while controlling for other genetic and environmental influences.
View Article and Find Full Text PDFmedRxiv
May 2025
Vanderbilt University Medical Center, Division of Genetic Medicine, Department of Medicine, 1211 Medical Center Drive, Nashville, TN 37232.
Objective: To develop and implement a pipeline for integrated breast cancer risk assessment using the BOADICEA model within the eMERGE study, incorporating polygenic risk scores (PRS), monogenic variants, family history, and clinical factors.
Materials And Methods: A pipeline was deployed across ten eMERGE clinical sites, integrating data from REDCap surveys, PRS reports, monogenic reports, and pedigrees via CanRisk Application Programming Interface (API). The process included design, customization, technical implementation, testing, and refinement.