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Topic:Genotyping

Genotyping in horses involves analyzing the genetic makeup of individual horses to identify specific genetic markers. This process aids in understanding genetic variations that may influence traits such as coat color, disease susceptibility, and performance capabilities. Genotyping can be used in breeding programs to select for desirable traits and manage genetic diversity within populations. Common methods for genotyping include single nucleotide polymorphism (SNP) analysis and microsatellite markers. This page compiles peer-reviewed research studies and scholarly articles that explore the methodologies, applications, and implications of genotyping in equine genetics and breeding.
To pace or not to pace: a pilot study of four- and five-gaited Icelandic horses homozygous for the DMRT3 ‘Gait Keeper’ mutation.
Animal genetics    October 11, 2017   Volume 48, Issue 6 694-697 doi: 10.1111/age.12610
Jäderkvist Fegraeus K, Hirschberg I, Árnason T, Andersson L, Velie BD, Andersson LS, Lindgren G.The Icelandic horse is a breed known mainly for its ability to perform the ambling four-beat gait 'tölt' and the lateral two-beat gait pace. The natural ability of the breed to perform these alternative gaits is highly desired by breeders. Therefore, the discovery that a nonsense mutation (C>A) in the DMRT3 gene was the main genetic factor for horses' ability to perform gaits in addition to walk, trot and canter was of great interest. Although several studies have demonstrated that homozygosity for the DMRT3 mutation is important for the ability to pace, only about 70% of the homozygous mutan...
Detection and molecular characterization of equine infectious anemia virus in Mongolian horses.
The Journal of veterinary medical science    October 11, 2017   Volume 79, Issue 11 1884-1888 doi: 10.1292/jvms.17-0202
Sharav T, Konnai S, Ochirkhuu N, Ts EO, Mekata H, Sakoda Y, Umemura T, Murata S, Chultemdorj T, Ohashi K.The genetic characterization and actual prevalence of EIAV in Mongolian horse in the disease endemic region is currently unknown. Here, 11 of 776 horse serum samples from four Mongolian provinces tested positive on agar gel immunodiffusion test. Genomic DNA extracted from all seropositive samples was subjected to nested PCR assay. Among these, three samples tested positive with nested PCR assay and were identified by sequencing analysis based on long termination repeat and tat gene of the virus. Two of the three sequences were identical, with 94.0% identity with the third. These two independen...
Genetic diversity of piroplasmids species in equids from island of São Luís, northeastern Brazil. Braga MDSCO, Costa FN, Gomes DRM, Xavier DR, André MR, Gonçalves LR, Freschi CR, Machado RZ.Equine piroplasmosisis, a tick-borne disease caused by the intra-erythrocytic protozoans Babesia caballi and Theileria equi, has economic importance due to the international trade and the increased movement of horses all over the world. The goal of this study was to evaluate the occurrence of phylogenetic diversity of T. equi and B. caballi genotypes among infected equids from São Luís Island, state of Maranhão, northeastern Brazil. Between December of 2011 and June of 2012, EDTA-blood and serum samples were collected from 139 equids (90 donkeys, 39 horses and 10 mules). From 139 serum samp...
Emergence of Nasal Carriage of ST80 and ST152 PVL+ Staphylococcus aureus Isolates from Livestock in Algeria.
Toxins    September 25, 2017   Volume 9, Issue 10 doi: 10.3390/toxins9100303
Agabou A, Ouchenane Z, Ngba Essebe C, Khemissi S, Chehboub MTE, Chehboub IB, Sotto A, Dunyach-Remy C, Lavigne JP.The spread of toxinogenic Staphylococcus aureus is a public health problem in Africa. The objectives of the study were to investigate the rate of S. aureus nasal carriage and molecular characteristics of these strains in livestock and humans in three Algerian provinces. Nasal samples were collected from camels, horses, cattle, sheep and monkeys, as well as humans in contact with them. S. aureus isolates were genotyped using DNA microarray. The rate of S. aureus nasal carriage varied between species: camels (53%), humans and monkeys (50%), sheep (44.2%), horses (15.2%) and cattle (15%). Nine me...
Identification of a divergent genotype of equine arteritis virus from South American donkeys.
Transboundary and emerging diseases    September 17, 2017   Volume 64, Issue 6 1655-1660 doi: 10.1111/tbed.12703
Rivas J, Neira V, Mena J, Brito B, Garcia A, Gutierrez C, Sandoval D, Ortega R.A novel equine arteritis virus (EAV) was isolated and sequenced from feral donkeys in Chile. Phylogenetic analysis indicates that the new virus and South African asinine strains diverged at least 100 years from equine EAV strains. The results indicate that asinine strains belonged to a different EAV genotype.
Single nucleotide polymorphisms for DNA typing in the domestic horse.
Animal genetics    September 13, 2017   Volume 48, Issue 6 669-676 doi: 10.1111/age.12608
Holl HM, Vanhnasy J, Everts RE, Hoefs-Martin K, Cook D, Brooks SA, Carpenter ML, Bustamante CD, Lafayette C.Genetic markers are important resources for individual identification and parentage assessment. Although short tandem repeats (STRs) have been the traditional DNA marker, technological advances have led to single nucleotide polymorphisms (SNPs) becoming an attractive alternative. SNPs can be highly multiplexed and automatically scored, which allows for easier standardization and sharing among laboratories. Equine parentage is currently assessed using STRs. We obtained a publicly available SNP dataset of 729 horses representing 32 diverse breeds. A proposed set of 101 SNPs was analyzed for DNA ...
Equine behavioral enrichment toys as tools for non-invasive recovery of viral and host DNA.
Zoo biology    September 12, 2017   Volume 36, Issue 5 341-344 doi: 10.1002/zoo.21380
Seeber PA, Soilemetzidou SE, East ML, Walzer C, Greenwood AD.Direct collection of samples from wildlife can be difficult and sometimes impossible. Non-invasive remote sampling for the purpose of DNA extraction is a potential tool for monitoring the presence of wildlife at the individual level, and for identifying the pathogens shed by wildlife. Equine herpesviruses (EHV) are common pathogens of equids that can be fatal if transmitted to other mammals. Transmission usually occurs by nasal aerosol discharge from virus-shedding individuals. The aim of this study was to validate a simple, non-invasive method to track EHV shedding in zebras and to establish ...
Association of the cysteine-rich secretory protein-3 (CRISP-3) and some of its polymorphisms with the quality of cryopreserved stallion semen.
Reproduction, fertility, and development    September 1, 2017   Volume 30, Issue 3 563-569 doi: 10.1071/RD17044
Usuga A, Rojano BA, Restrepo G.Contribution of seminal plasma proteins to semen freezability has been reported in several species, suggesting these proteins as genetic markers. The aim of this study was to evaluate the relationship between cysteine-rich secretory protein-3 (CRISP-3) and some of its single-nucleotide polymorphisms (SNPs) with post-thawing semen quality in stallions. DNA was obtained from 100 stallions, regions of interest were amplified by polymerase chain reaction and sequenced. Evaluated SNPs within the equine CRISP-3 gene were CRISP3c.+199A>G (SNP1), CRISP3c.+566C>A (SNP2), CRISP3c.+622G>A (SNP3)...
Whole-loop mitochondrial DNA D-loop sequence variability in Egyptian Arabian equine matrilines.
PloS one    August 31, 2017   Volume 12, Issue 8 e0184309 doi: 10.1371/journal.pone.0184309
Hudson W.Egyptian Arabian horses have been maintained in a state of genetic isolation for over a hundred years. There is only limited genetic proof that the studbook records of female lines of Egyptian Arabian pedigrees are reliable. This study characterized the mitochondrial DNA (mtDNA) signatures of 126 horses representing 14 matrilines in the Egyptian Agricultural Organization (EAO) horse-breeding program. Results: Analysis of the whole D-loop sequence yielded additional information compared to hypervariable region-1 (HVR1) analysis alone, with 42 polymorphic sites representing ten haplotypes compar...
Genome-wide association study for tobiano spotting coat color in Korean Jeju × Thoroughbred horse population.
Animal genetics    August 29, 2017   Volume 48, Issue 6 728-729 doi: 10.1111/age.12596
Kim NY, Bhuiyan MSA, Chae HS, Baek KS, Son JK, Shin SM, Woo JH, Park SH, Lee SH.No abstract available
Development of a multilocus sequence typing scheme for Rhodococcus equi.
Veterinary microbiology    August 19, 2017   Volume 210 64-70 doi: 10.1016/j.vetmic.2017.08.010
Duquesne F, Houssin E, Sévin C, Duytschaever L, Tapprest J, Fretin D, Hébert L, Laugier C, Petry S.Rhodococcus equi causes pulmonary and extrapulmonary infections in animals and humans, with endemic situations and significant young foal mortality in stud farms worldwide. Despite its economic impact in the horse-breeding industry, the broad geographic and host distribution, global diversity and population structure of R. equi remain poorly characterised. In this context, we developed a multilocus sequence typing (MLST) scheme using 89 clinical and environmental R. equi of various origins and eight Rhodococcus sp. Data can be accessed at http://pubmlst.org/rhodococcus/. A clonal R. equi popul...
Two Variants in SLC24A5 Are Associated with “Tiger-Eye” Iris Pigmentation in Puerto Rican Paso Fino Horses.
G3 (Bethesda, Md.)    August 7, 2017   Volume 7, Issue 8 2799-2806 doi: 10.1534/g3.117.043786
Mack M, Kowalski E, Grahn R, Bras D, Penedo MCT, Bellone R.A unique eye color, called tiger-eye, segregates in the Puerto Rican Paso Fino (PRPF) horse breed and is characterized by a bright yellow, amber, or orange iris. Pedigree analysis identified a simple autosomal recessive mode of inheritance for this trait. A genome-wide association study (GWAS) with 24 individuals identified a locus on ECA 1 reaching genome-wide significance ( = 1.32 × 10). This ECA1 locus harbors the candidate gene, (), (), with known roles in pigmentation in humans, mice, and zebrafish. Humans with compound heterozygous mutations in have oculocutaneous albinism (OCA) type...
Developing a 670k genotyping array to tag ~2M SNPs across 24 horse breeds.
BMC genomics    July 27, 2017   Volume 18, Issue 1 565 doi: 10.1186/s12864-017-3943-8
Schaefer RJ, Schubert M, Bailey E, Bannasch DL, Barrey E, Bar-Gal GK, Brem G, Brooks SA, Distl O, Fries R, Finno CJ, Gerber V, Haase B, Jagannathan V....To date, genome-scale analyses in the domestic horse have been limited by suboptimal single nucleotide polymorphism (SNP) density and uneven genomic coverage of the current SNP genotyping arrays. The recent availability of whole genome sequences has created the opportunity to develop a next generation, high-density equine SNP array. Using whole genome sequence from 153 individuals representing 24 distinct breeds collated by the equine genomics community, we cataloged over 23 million de novo discovered genetic variants. Leveraging genotype data from individuals with both whole genome sequence, ...
The evolutionary history of the DMRT3 ‘Gait keeper’ haplotype.
Animal genetics    July 25, 2017   Volume 48, Issue 5 551-559 doi: 10.1111/age.12580
Staiger EA, Almén MS, Promerová M, Brooks S, Cothran EG, Imsland F, Jäderkvist Fegraeus K, Lindgren G, Mehrabani Yeganeh H, Mikko S, Vega-Pla JL....A previous study revealed a strong association between the DMRT3:Ser301STOP mutation in horses and alternate gaits as well as performance in harness racing. Several follow-up studies have confirmed a high frequency of the mutation in gaited horse breeds and an effect on gait quality. The aim of this study was to determine when and where the mutation arose, to identify additional potential causal mutations and to determine the coalescence time for contemporary haplotypes carrying the stop mutation. We utilized sequences from 89 horses representing 26 breeds to identify 102 SNPs encompassing the...
A genome-wide association study for equine recurrent airway obstruction in European Warmblood horses reveals a suggestive new quantitative trait locus on chromosome 13.
Animal genetics    July 24, 2017   Volume 48, Issue 6 691-693 doi: 10.1111/age.12583
Schnider D, Rieder S, Leeb T, Gerber V, Neuditschko M.Recurrent airway obstruction (RAO), also known as heaves, is an asthma-like respiratory disease. Its development is strongly influenced by environmental risk factors such as sensitization and exposure to moldy hay, straw bedding and stabling indoors. A hereditary component has been documented in previous studies; however, so far no causative genetic variant that influences the risk of developing RAO has been identified. In this study, we revised an existing dataset and selected 384 horses for genotyping on the Affymetrix high-density equine SNP array. We performed an allelic case-control genom...
Mitochondrial DNA genetic variations among four horse populations in Egypt.
Journal, genetic engineering & biotechnology    July 6, 2017   Volume 15, Issue 2 469-474 doi: 10.1016/j.jgeb.2017.06.004
Othman OE, Mahrous KF, Shafey HI.Horses are one of the early domesticated animals in the world that changed societies and civilizations on a continent-wide scale. Due to the rare information about the genetic characterization of different horse populations in Egypt, this study aimed to identify the genetic biodiversity and relationships between four horse populations reared in Egypt. Genomic DNA was extracted and mtDNA region was amplified using polymerase chain reaction (PCR). The alignment of 384-bp amplified fragments showed the presence of 41 polymorphic sites resulting in 29 haplotypes which their sequences were submitte...
Evaluating the potential roles of the Gray and Extension loci in the coat coloration of Thoroughbred racing horses.
Journal of equine science    July 6, 2017   Volume 28, Issue 2 61-65 doi: 10.1294/jes.28.61
Sakamoto T, Fawcett JA, Innan H.Horses have substantial variation in coat color, and the genetic loci responsible for the coat color variations have been well investigated. It has been believed that some color variations should follow a single-locus Mendelian law. Examples include the Gray locus that causes the gray phenotype and the Extension locus that specifies the chestnut phenotype. We reevaluated the roles of the Gray and Extension loci by using a large number of mating records of Thoroughbred racing horses. We showed that the data indeed fits the Mendelian law extremely well for the two loci. Furthermore, we demonstra...
The in vitro biocompatibility of d-(+) raffinose modified chitosan: Two-dimensional and three-dimensional systems for culturing of horse articular chondrocytes.
Research in veterinary science    June 15, 2017   Volume 115 310-317 doi: 10.1016/j.rvsc.2017.06.005
De Angelis E, Ravanetti F, Martelli P, Cacchioli A, Ivanovska A, Corradi A, Nasi S, Bianchera A, Passeri B, Canelli E, Bettini R, Borghetti P.The present study investigated the biocompatibility of chitosan films and scaffolds modified with d-(+)raffinose and their capability to support the growth and maintenance of the differentiation of articular chondrocytes in vitro. Primary equine articular chondrocytes were cultured on films and scaffolds of modified d-(+) raffinose chitosan. Their behavior was compared to that of chondrocytes grown in conventional bi- and three-dimensional culture systems, such as micromasses and alginate beads. Chitosan films maintained the phenotype of differentiated chondrocytes (typical round morphology) a...
Genotyping horse epithelial cells from fecal matter by isolation of polymerase chain reaction products.
Croatian medical journal    June 15, 2017   Volume 58, Issue 3 239-249 doi: 10.3325/cmj.2017.58.239
Dimsoski P.To show that application of the polymerase chain reaction (PCR) method modified for amplification of a low-copy number DNA samples, ie, the isolation of PCR products (IPCRp), would represent improvement in obtaining genotypes from a fecal DNA compared with previously used genotyping methods. Methods: The DNA from the horse fecal matter was extracted by modified Qiagen DNA Stool Mini Kit protocol. Following the extraction, the DNA genotypes from fecal samples were obtained by the most powerful PCR amplification method, the IPCRp. The IPCRp-based multiplex kit amplified biotin-labeled strands we...
The refractive state of the eye in Icelandic horses with the Silver mutation.
BMC veterinary research    June 2, 2017   Volume 13, Issue 1 153 doi: 10.1186/s12917-017-1059-7
Johansson MK, Jäderkvist Fegraeus K, Lindgren G, Ekesten B.The syndrome Multiple Congenital Ocular Anomalies (MCOA) is a congenital eye disorder in horses. Both the MCOA syndrome and the Silver coat colour in horses are caused by the same missense mutation in the premelanosome protein (PMEL) gene. Horses homozygous for the Silver mutation (TT) are affected by multiple ocular defects causing visual impairment or blindness. Horses heterozygous for the Silver mutation (CT) have less severe clinical signs, usually cysts arising from the ciliary body iris or retina temporally. It is still unknown if the vision is impaired in horses heterozygous for the Sil...
Genetic diversity of Syrian Arabian horses.
Animal genetics    May 31, 2017   Volume 48, Issue 4 486-489 doi: 10.1111/age.12568
Almarzook S, Reissmann M, Arends D, Brockmann GA.Although Arabian horses have been bred in strains for centuries and pedigrees have been recorded in studbooks, to date, little is known about the genetic diversity within and between these strains. In this study, we tested if the three main strains of Syrian Arabian horses descend from three founders as suggested by the studbook. We examined 48 horses representing Saglawi (n = 18), Kahlawi (n = 16) and Hamdani (n = 14) strains using the Equine SNP70K BeadChip. For comparison, an additional 24 Arabian horses from the USA and three Przewalski's horses as an out group were added. Observed h...
Molecular characterisation of equine group A rotaviruses in Ireland (2011-2015).
Veterinary journal (London, England : 1997)    May 31, 2017   Volume 226 12-14 doi: 10.1016/j.tvjl.2017.05.004
Nemoto M, Ryan E, Lyons P, Cullinane A.The molecular epidemiology of equine group A rotaviruses (RVAs) in Ireland from 2011 to 2015 was investigated. Of 438 diagnostic specimens submitted from foals with enteric disease, 102 (23.3%) were positive for RVA using an immunochromatographic assay. G genotypes were determined for 76 equine RVAs, of which 68 (89.5%) were G3 and eight (10.5%) were G14. Of 18 RVAs (12 G3 and six G14) characterised by P genotyping, all were P[12]. G3P[12] and G14P[12] were the most prevalent genotypes of RVA in foals in Ireland, similar to other countries and consistent with previous studies in Ireland from 1...
Identification of key contributors in complex population structures.
PloS one    May 16, 2017   Volume 12, Issue 5 e0177638 doi: 10.1371/journal.pone.0177638
Neuditschko M, Raadsma HW, Khatkar MS, Jonas E, Steinig EJ, Flury C, Signer-Hasler H, Frischknecht M, von Niederhäusern R, Leeb T, Rieder S.Evaluating the genetic contribution of individuals to population structure is essential to select informative individuals for genome sequencing, genotype imputation and to ascertain complex population structures. Existing methods for the selection of informative individuals for genomic imputation solely focus on the identification of key ancestors, which can lead to a loss of phasing accuracy of the reference population. Currently many methods are independently applied to investigate complex population structures. Based on the Eigenvalue Decomposition (EVD) of a genomic relationship matrix we ...
Lack of significant associations with early career performance suggest no link between the DMRT3 “Gait Keeper” mutation and precocity in Coldblooded trotters.
PloS one    May 10, 2017   Volume 12, Issue 5 e0177351 doi: 10.1371/journal.pone.0177351
Jäderkvist Fegraeus K, Lawrence C, Petäjistö K, Johansson MK, Wiklund M, Olsson C, Andersson L, Andersson LS, Røed KH, Ihler CF, Strand E....The Swedish-Norwegian Coldblooded trotter (CBT) is a local breed in Sweden and Norway mainly used for harness racing. Previous studies have shown that a mutation from cytosine (C) to adenine (A) in the doublesex and mab-3 related transcription factor 3 (DMRT3) gene has a major impact on harness racing performance of different breeds. An association of the DMRT3 mutation with early career performance has also been suggested. The aim of the current study was to investigate this proposed association in a randomly selected group of CBTs. 769 CBTs (485 raced, 284 unraced) were genotyped for the DMR...
A missense mutation in damage-specific DNA binding protein 2 is a genetic risk factor for limbal squamous cell carcinoma in horses.
International journal of cancer    May 8, 2017   Volume 141, Issue 2 342-353 doi: 10.1002/ijc.30744
Bellone RR, Liu J, Petersen JL, Mack M, Singer-Berk M, Drögemüller C, Malvick J, Wallner B, Brem G, Penedo MC, Lassaline M.Squamous cell carcinoma (SCC) is the most common cancer of the equine eye, frequently originating at the limbus, with the potential to invade the cornea, cause visual impairment, and result in loss of the eye. Several breeds of horses have a high occurrence of limbal SCC implicating a genetic basis for limbal SCC predisposition. Pedigree analysis in the Haflinger breed supports a simple recessive mode of inheritance and a genome-wide association study (N = 23) identified a 1.5 Mb locus on ECA12 significantly associated with limbal SCC (Pcorrected = 0.04). Sequencing the most physiologicall...
Nationwide molecular epidemiology of methicillin-resistant Staphylococcus aureus responsible for horse infections in France.
BMC microbiology    May 3, 2017   Volume 17, Issue 1 104 doi: 10.1186/s12866-016-0924-z
Guérin F, Fines-Guyon M, Meignen P, Delente G, Fondrinier C, Bourdon N, Cattoir V, Léon A.The epidemiology of methicillin-resistant Staphylococcus aureus (MRSA) isolated in horse infections is not well documented, especially in France. The aim of the study was to evaluate the prevalence of MRSA isolates in horse infections from 2007 to 2013 in France and to characterize phenotypically and genotypically this collection. Out of 1393 S. aureus horse isolates, 85 (6.1%) were confirmed to be MRSA. Interestingly, the prevalence of MRSA significantly increased from 2007-2009 to 2010-2013 (0.7 vs. 9.5%, P <0.0001). Resistance to methicillin was due to the presence of the mecA gene in 84 st...
Nonsynonymous changes of equine lentivirus receptor-1 (ELR1) gene in amino acids involved in the interaction with equine infectious anemia virus (EIAV).
Research in veterinary science    May 2, 2017   Volume 112 185-191 doi: 10.1016/j.rvsc.2017.05.001
Equine lentivirus receptor-1 (ELR1) has been characterized as the specific functional receptor that mediates equine infectious anemia virus (EIAV) entrance to horse macrophages. This receptor is tumor necrosis factor receptor superfamily member 14 (TNFRSF14). The aim of this study was to investigate the occurrence of allelic variants in the coding sequence of equine TNFRSF14 gene by screening for single-nucleotide polymorphisms (SNPs) in different equine populations. Forty seven horse samples were randomly selected from a reservoir of EIAV-seropositive and seronegative samples collected from d...
Phenotypic and Genetic Analysis of the Leopard Complex Spotting in Noriker Horses.
The Journal of heredity    April 30, 2017   Volume 108, Issue 5 505-514 doi: 10.1093/jhered/esx039
Druml T, Grilz-Seger G, Neuditschko M, Neuhauser B, Brem G.Genetic analyses of coat colors are frequently restricted to subjectively categorized phenotype information. The aim of this study was to develop a method to numerically quantify the variability of leopard complex (LP) spotting phenotypes introducing tools from image analysis. Generalized Procrustes analysis eliminates systematic errors due to imaging process. The binarization of normalized images and the application of principal component analysis (PCA) on the derived pixel matrices, transform pixel information into numerical data space. We applied these methods on 90 images to ascertain the ...
Genetic characterization of equid herpesvirus type 1 from cases of abortion in Poland.
Archives of virology    April 27, 2017   Volume 162, Issue 8 2329-2335 doi: 10.1007/s00705-017-3376-3
Stasiak K, Dunowska M, Hills SF, Rola J.Equid herpesvirus type 1 (EHV-1) is a common viral infection associated with varied clinical outcomes including respiratory disease, abortion and neurological disease. We have characterized EHV-1 sequences (n = 38) obtained from cases of equine abortion in Poland between 1999 and 2016, based on sequencing of PCR products from open reading frames (ORF) 30 and 68 of the EHV-1 genome. The majority (81.6%) of sequences were not classified into any of the previously described groups based on the ORF68 sequence. The remaining sequences belonged to ORF68 group III (7.9%) or IV (10.5%). A haplotype ne...
Application of Genomic Estimation Methods of Inbreeding and Population Structure in an Arabian Horse Herd.
The Journal of heredity    April 27, 2017   Volume 108, Issue 4 361-368 doi: 10.1093/jhered/esx025
Al Abri MA, König von Borstel U, Strecker V, Brooks SA.Horse breeders rely heavily on pedigrees for identification of ancestry in breeding stock. Inaccurate pedigrees may erroneously assign individuals to false lineages or breed memberships resulting in wrong estimates of inbreeding and coancestry. Moreover, discrepancies in pedigree records can lead breeders seeking to limit inbreeding into making misguided breeding decisions. Genome-wide SNPs provide a quantitative tool to aid in the resolution of lineage assignments and the calculation of genomic measures of relatedness. The aim of this project was to pilot a comparison between pedigree and gen...
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