scholarly journals Emerging issues in genomic selection

Author(s):  
I Misztal ◽  
I Aguilar ◽  
D Lourenco ◽  
L Ma ◽  
J Steibel ◽  
...  

Abstract Genomic selection is now practiced successfully across many species. However, many questions remain such as long-term effects, estimations of genomic parameters, robustness of GWAS with small and large datasets, and stability of genomic predictions. This study summarizes presentations from at the 2020 ASAS symposium. The focus of many studies until now is on linkage disequilibrium (LD) between two loci. Ignoring higher level equilibrium may lead to phantom dominance and epistasis. The Bulmer effect leads to a reduction of the additive variance; however, selection for increased recombination rate can release anew genetic variance. With genomic information, estimates of genetic parameters may be biased by genomic preselection, but costs of estimation can increase drastically due to the dense form of the genomic information. To make computation of estimates feasible, genotypes could be retained only for the most important animals, and methods of estimation should use algorithms that can recognize dense blocks in sparse matrices. GWAS studies using small genomic datasets frequently find many marker-trait associations whereas studies using much bigger datasets find only a few. Most current tools use very simple models for GWAS, possibly causing artifacts. These models are adequate for large datasets where pseudo-phenotypes such as deregressed proofs indirectly account for important effects for traits of interest. Artifacts arising in GWAS with small datasets can be minimized by using data from all animals (whether genotyped or not), realistic models, and methods that account for population structure. Recent developments permit computation of p-values from GBLUP, where models can be arbitrarily complex but restricted to genotyped animals only, and to single-step GBLUP that also uses phenotypes from ungenotyped animals. Stability was an important part of nongenomic evaluations, where genetic predictions were stable in the absence of new data even with low prediction accuracies. Unfortunately, genomic evaluations for such animals change because all animals with genotypes are connected. A top ranked animal can easily drop in the next evaluation, causing a crisis of confidence in genomic evaluations. While correlations between consecutive genomic evaluations are high, outliers can have differences as high as one SD. A solution to fluctuating genomic evaluations is to base selection decisions on groups of animals. While many issues in genomic selection have been solved, many new issues that require additional research continue to surface.

2015 ◽  
Vol 143 (16) ◽  
pp. 3538-3545 ◽  
Author(s):  
M. TREMBLAY ◽  
J. S. DAHM ◽  
C. N. WAMAE ◽  
W. A. DE GLANVILLE ◽  
E. M. FÈVRE ◽  
...  

SUMMARYLarge datasets are often not amenable to analysis using traditional single-step approaches. Here, our general objective was to apply imputation techniques, principal component analysis (PCA), elastic net and generalized linear models to a large dataset in a systematic approach to extract the most meaningful predictors for a health outcome. We extracted predictors for Plasmodium falciparum infection, from a large covariate dataset while facing limited numbers of observations, using data from the People, Animals, and their Zoonoses (PAZ) project to demonstrate these techniques: data collected from 415 homesteads in western Kenya, contained over 1500 variables that describe the health, environment, and social factors of the humans, livestock, and the homesteads in which they reside. The wide, sparse dataset was simplified to 42 predictors of P. falciparum malaria infection and wealth rankings were produced for all homesteads. The 42 predictors make biological sense and are supported by previous studies. This systematic data-mining approach we used would make many large datasets more manageable and informative for decision-making processes and health policy prioritization.


2020 ◽  
Vol 98 (Supplement_4) ◽  
pp. 246-247
Author(s):  
Matias Bermann ◽  
Andres Legarra ◽  
Mary Kate Hollifield ◽  
Yutaka Masuda ◽  
Daniela Lourenco ◽  
...  

Abstract The objective of this study was to determine whether the linear regression (LR) method could be used to validate genomic threshold models used for analysis of categorical data. Statistics for the LR method were computed from estimated breeding values (EBVs) using the whole and truncated datasets. The method was tested using simulated and real chicken datasets. The simulated dataset included ten generations of 4,500 birds each; genotypes were available for the last three generations. Each animal was assigned a continuous trait, which was converted to a binary score assuming an incidence of failure of 7%. The real dataset included the survival status of 186,596 broilers (mortality rate equal to 7.2%) and genotypes of 18,047 birds. Both datasets were analyzed using Best Linear Unbiased Predictor (BLUP) or single-step GBLUP (ssGBLUP). The whole dataset included all phenotypes available, whereas in the partial dataset, phenotypes of the most recent generation were removed. In the simulated dataset, the accuracies based on the LR formulas were 0.45 for BLUP and 0.76 for ssGBLUP, whereas the correlations between true breeding values and EBVs were 0.37 and 0.65, respectively. The gain in accuracy by adding genomic information was overestimated by 0.09 when using the LR method compared to the true increase in accuracy. However, when the estimated ratio between the additive variance computed based on pedigree only and on pedigree and genomic information was considered, the difference between true and estimated gain was less than 0.02. Accuracies of BLUP and ssGBLUP with the real dataset were 0.41 and 0.47, respectively. Smaller improvements in accuracy when using ssGBLUP with the real dataset were due to population structure and lower heritability. The LR method is a useful tool for estimating improvements in accuracy of EBVs due to the inclusion of genomic information when traditional validation methods are not applicable.


2019 ◽  
Vol 7 (2) ◽  
pp. 24
Author(s):  
Aju J. Fenn ◽  
Lucas Gerdes ◽  
Samuel Rothstein

Using data from 2005 to 2016, this paper examines if players in the National Hockey League (NHL) are being paid a positive differential for their services due to the competition from the Kontinental Hockey League (KHL) and the Swedish Hockey League (SHL). In order to control for performance, we use two different large datasets, (N = 4046) and (N = 1717). In keeping with the existing literature, we use lagged performance statistics and dummy variables to control for the type of NHL contract. The first dataset contains lagged career performance statistics, while the performance statistics are based on the statistics generated during the years under the player’s previous contract. Fixed effects least squares (FELS) and quantile regression results suggest that player production statistics, contract status, and country of origin are significant determinants of NHL player salaries.


Genes ◽  
2021 ◽  
Vol 12 (2) ◽  
pp. 210
Author(s):  
Sang V. Vu ◽  
Cedric Gondro ◽  
Ngoc T. H. Nguyen ◽  
Arthur R. Gilmour ◽  
Rick Tearle ◽  
...  

Genomic selection has been widely used in terrestrial animals but has had limited application in aquaculture due to relatively high genotyping costs. Genomic information has an important role in improving the prediction accuracy of breeding values, especially for traits that are difficult or expensive to measure. The purposes of this study were to (i) further evaluate the use of genomic information to improve prediction accuracies of breeding values from, (ii) compare different prediction methods (BayesA, BayesCπ and GBLUP) on prediction accuracies in our field data, and (iii) investigate the effects of different SNP marker densities on prediction accuracies of traits in the Portuguese oyster (Crassostrea angulata). The traits studied are all of economic importance and included morphometric traits (shell length, shell width, shell depth, shell weight), edibility traits (tenderness, taste, moisture content), and disease traits (Polydora sp. and Marteilioides chungmuensis). A total of 18,849 single nucleotide polymorphisms were obtained from genotyping by sequencing and used to estimate genetic parameters (heritability and genetic correlation) and the prediction accuracy of genomic selection for these traits. Multi-locus mixed model analysis indicated high estimates of heritability for edibility traits; 0.44 for moisture content, 0.59 for taste, and 0.72 for tenderness. The morphometric traits, shell length, shell width, shell depth and shell weight had estimated genomic heritabilities ranging from 0.28 to 0.55. The genomic heritabilities were relatively low for the disease related traits: Polydora sp. prevalence (0.11) and M. chungmuensis (0.10). Genomic correlations between whole weight and other morphometric traits were from moderate to high and positive (0.58–0.90). However, unfavourably positive genomic correlations were observed between whole weight and the disease traits (0.35–0.37). The genomic best linear unbiased prediction method (GBLUP) showed slightly higher accuracy for the traits studied (0.240–0.794) compared with both BayesA and BayesCπ methods but these differences were not significant. In addition, there is a large potential for using low-density SNP markers for genomic selection in this population at a number of 3000 SNPs. Therefore, there is the prospect to improve morphometric, edibility and disease related traits using genomic information in this species.


2021 ◽  
Vol 99 (2) ◽  
Author(s):  
Yutaka Masuda ◽  
Shogo Tsuruta ◽  
Matias Bermann ◽  
Heather L Bradford ◽  
Ignacy Misztal

Abstract Pedigree information is often missing for some animals in a breeding program. Unknown-parent groups (UPGs) are assigned to the missing parents to avoid biased genetic evaluations. Although the use of UPGs is well established for the pedigree model, it is unclear how UPGs are integrated into the inverse of the unified relationship matrix (H-inverse) required for single-step genomic best linear unbiased prediction. A generalization of the UPG model is the metafounder (MF) model. The objectives of this study were to derive 3 H-inverses and to compare genetic trends among models with UPG and MF H-inverses using a simulated purebred population. All inverses were derived using the joint density function of the random breeding values and genetic groups. The breeding values of genotyped animals (u2) were assumed to be adjusted for UPG effects (g) using matrix Q2 as u2∗=u2+Q2g before incorporating genomic information. The Quaas–Pollak-transformed (QP) H-inverse was derived using a joint density function of u2∗ and g updated with genomic information and assuming nonzero cov(u2∗,g′). The modified QP (altered) H-inverse also assumes that the genomic information updates u2∗ and g, but cov(u2∗,g′)=0. The UPG-encapsulated (EUPG) H-inverse assumed genomic information updates the distribution of u2∗. The EUPG H-inverse had the same structure as the MF H-inverse. Fifty percent of the genotyped females in the simulation had a missing dam, and missing parents were replaced with UPGs by generation. The simulation study indicated that u2∗ and g in models using the QP and altered H-inverses may be inseparable leading to potential biases in genetic trends. Models using the EUPG and MF H-inverses showed no genetic trend biases. These 2 H-inverses yielded the same genomic EBV (GEBV). The predictive ability and inflation of GEBVs from young genotyped animals were nearly identical among models using the QP, altered, EUPG, and MF H-inverses. Although the choice of H-inverse in real applications with enough data may not result in biased genetic trends, the EUPG and MF H-inverses are to be preferred because of theoretical justification and possibility to reduce biases.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Lauren L. Schmitz ◽  
Julia Goodwin ◽  
Jiacheng Miao ◽  
Qiongshi Lu ◽  
Dalton Conley

AbstractUnemployment shocks from the COVID-19 pandemic have reignited concerns over the long-term effects of job loss on population health. Past research has highlighted the corrosive effects of unemployment on health and health behaviors. This study examines whether the effects of job loss on changes in body mass index (BMI) are moderated by genetic predisposition using data from the U.S. Health and Retirement Study (HRS). To improve detection of gene-by-environment (G × E) interplay, we interacted layoffs from business closures—a plausibly exogenous environmental exposure—with whole-genome polygenic scores (PGSs) that capture genetic contributions to both the population mean (mPGS) and variance (vPGS) of BMI. Results show evidence of genetic moderation using a vPGS (as opposed to an mPGS) and indicate genome-wide summary measures of phenotypic plasticity may further our understanding of how environmental stimuli modify the distribution of complex traits in a population.


2021 ◽  
Vol 13 (8) ◽  
pp. 4316
Author(s):  
Shingo Yoshida ◽  
Hironori Yagi

The coronavirus disease 2019 (Covid-19) pandemic has forced global food systems to face unprecedented uncertain shocks even in terms of human health. Urban agriculture is expected to be more resilient because of its short supply chain for urban people and diversified farming activities. However, the short-and long-term effects of the Covid-19 pandemic on urban farms remain unclear. This study aims to reveal the conditions for farm resilience to the Covid-19 pandemic in 2020 and the relationship between short-term farm resilience and long-term farm development using data from a survey of 74 farms located in Tokyo. The results are as follows. First, more than half of the sample farms increased their farm sales during this period. This resilience can be called the “persistence” approach. Second, short-term farm resilience and other sustainable farm activities contributed to improving farmers’ intentions for long-term farm development and farmland preservation. Third, the most important resilience attributes were the direct marketing, entrepreneurship, and social networks of farmers. We discussed the necessity of building farmers’ transformative capabilities for a more resilient urban farming system. These results imply that support to enhance the short-term resilience of urban farms is worth more than the short-term profit of the farms.


2020 ◽  
Vol 295 (38) ◽  
pp. 13314-13325
Author(s):  
Yanyu Zhu ◽  
James C. Weisshaar ◽  
Mainak Mustafi

Proline-rich antimicrobial peptides (PrAMPs) are cationic antimicrobial peptides unusual for their ability to penetrate bacterial membranes and kill cells without causing membrane permeabilization. Structural studies show that many such PrAMPs bind deep in the peptide exit channel of the ribosome, near the peptidyl transfer center. Biochemical studies of the particular synthetic PrAMP oncocin112 (Onc112) suggest that on reaching the cytoplasm, the peptide occupies its binding site prior to the transition from initiation to the elongation phase of translation, thus blocking further initiation events. We present a superresolution fluorescence microscopy study of the long-term effects of Onc112 on ribosome, elongation factor-Tu (EF-Tu), and DNA spatial distributions and diffusive properties in intact Escherichia coli cells. The new data corroborate earlier mechanistic inferences from studies in vitro. Comparisons with the diffusive behavior induced by the ribosome-binding antibiotics chloramphenicol and kasugamycin show how the specific location of each agent's ribosomal binding site affects the long-term distribution of ribosomal species between 30S and 50S subunits versus 70S polysomes. Analysis of the single-step displacements from ribosome and EF-Tu diffusive trajectories before and after Onc112 treatment suggests that the act of codon testing of noncognate ternary complexes (TCs) at the ribosomal A-site enhances the dissociation rate of such TCs from their L7/L12 tethers. Testing and rejection of noncognate TCs on a sub-ms timescale is essential to enable incorporation of the rare cognate amino acids into the growing peptide chain at a rate of ∼20 aa/s.


2013 ◽  
Vol 392 ◽  
pp. 725-729 ◽  
Author(s):  
Rafael José Gomes de Oliveira ◽  
Mauro Hugo Mathias

The application of the HFRT (High-Frequency Resonance Technique), a demodulation based technique, is a technique for evaluation the condition of bearings and other components in rotating machinery. Another technique MED (Minimum Entropy Deconvolution) has been the subject of recent developments for application in condition monitoring of gear trains and roller bearings. This article demonstrates the effectiveness of the combined application of the MED technique with HFRT in order to enhance the capacity of HFRT to identify the characteristic fault frequencies of damaged bearings by increasing the signal impulsivity. All tests were done using data collected from an experimental test bench in laboratory. The Kurtosis value is used as an indicator of effectiveness of the combined technique and the results shown an increase of five times the original kurtosis value with the application of MED filter together with the HFRT.


2021 ◽  
Vol 99 (Supplement_3) ◽  
pp. 19-20
Author(s):  
Taylor M McWhorter ◽  
Andre Garcia ◽  
Matias Bermann ◽  
Andres Legarra ◽  
Ignacio Aguilar ◽  
...  

Abstract Single-step GBLUP (ssGBLUP) relies on the combination of genomic (G) and pedigree relationships for all (A) and genotyped animals (A22). The procedure implemented in the BLUPF90 software suite first involves combining a small percentage of A22 into G (blending) to avoid singularity problems, then an adjustment to account for the fact the genetic base in G and A22 is different (tuning). However, blending before tuning may not reflect the actual difference between pedigree and genomic base because the blended matrix already contains a portion of A22. The objective of this study was to evaluate the impact of tuning before blending on predictivity, bias, and inflation of GEBV, indirect predictions (IP), and SNP effects from ssGBLUP using American Angus and US Holstein data. We used four different scenarios to obtain genomic predictions: BlendFirst_TunedG2, TuneFirst_TunedG2, BlendFirst_TunedG4, and TuneFirst_TunedG4. TunedG2 adjusts mean diagonals and off-diagonals of G to be similar to the ones in A22, whereas TunedG4 adjusts based on the fixation index. Over 6 million growth records were available for Angus and 5.9 million udder depth records for Holsteins. Genomic information was available on 51,478 Angus and 105,116 Holstein animals. Predictivity and reliability were obtained for 19,056 and 1,711 validation Angus and Holsteins, respectively. We observed the same predictivity and reliability for GEBV or IP in all four scenarios, ranging from 0.47 to 0.60 for Angus and was 0.67 for Holsteins. Slightly less bias was observed when tuning was done before blending. Correlation of SNP effects between scenarios was > 0.99. Refined tuning before blending had no impact on GEBV and marginally reduced the bias. This option will be implemented in the BLUPF90 software suite.


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