High-density SNP Array Research Articles

Genome-wide detection and analysis of copy number variations in Sal sheep using a high-density SNP array

Purpose: to identify CNV regions (CNVRs) and identify potentially specific CNVs in Sal sheep.Materials and methods. The research was carried out on 48 Salsk breed sheep. Genotyping was performed using high-density microarrays Ovine SNP 600 K BeadChip array (Illumina, USA). DNA copy number variation (CNV) searches were performed using PennCNV software based on the Oar_v3.1 reference genome.Results. We identified 4585 autosomal CNVs in 48 Sal breed sheep. The average CNV length was 92,3 Kb. 21,1 % of the total number of CNVs are less than 50 Kb in size. On average, from 65 to 138 CNVs were identified per animal. 527 autosomal CNVRs were obtained, representing 54,77 Mb of the entire sheep genome. The proportion of chromosomes covered by CNVR varies by chromosome, from 0,5 % on OAR25 to 9 % on OAR24. Analysis of CNVR in the ENCEMBL system revealed 42 genes in which CNVRs are localized; the remaining CNVRs are located in intergenic regions. Comparison of the identified CNVRs with sheep QTLs from the Animal QTL database showed that 39,24 % of the genes were responsible for reproductive traits, and 20,25 % were responsible for wool-related traits.Conclusions. Functional annotation of CNVRs localized in genes and intergenic spaces was carried out and the total number of detected CNVRs in the QTL database was analyzed. The results showed that CNVs are localized in genes associated with selection-significant traits in sheep.

Advancing equine genomics: the development of a high density Axiom_Ashwa SNP chip for Indian horses and ponies.

The unique horse and pony breeds of India are declining at an alarming rate. These horses have been integral to the Indian culture and customs for centuries and represent a valuable genetic resource. It is imperative to harness the potential of this equine genetic resource that urgently needs conservation. The study highlights the design and development of a high density SNP array, the Axiom_Ashwa to aid in the genetic analysis and conservation efforts for Indian horse and pony breeds. With 613,950 SNPs, this chip offers extensive genome coverage having an average inter-marker distance of 4kb. The Axiom_Ashwa has been validated on a larger set of diverse indigenous samples as well as Thoroughbreds, demonstrating a high call rate of 99.4% and robustness for genotyping indigenous breeds. Linkage disequilibrium (LD) analysis showed higher average LD in Indian breeds compared to exotic breeds, suggesting a limited effective population size and recent bottlenecks. Phylogenetic and population stratification analyses using PCA and DAPC clearly distinguished horses, ponies and Thoroughbreds, confirming the efficacy of the Axiom_Ashwa chip. These findings underscore the urgent need for conservation efforts for Indian horse breeds, which have experienced significant drop in population size. The Axiom_Ashwa SNP chip offers advantages such as cost-effectiveness and high throughput, providing a more accurate genetic representation of Indian horses.

Application of the FISH method and high-density SNP arrays to assess genetic changes in neuroblastoma-research by one institute.

Neuroblastoma is the most common extracranial solid tumor in children. Amplification of the MYCN gene has been observed in approximately 20%-30% of tumors. It is strongly correlated with advanced-stage disease, rapid tumor progression, resistance to chemotherapy and poor outcomes independent of patient age and stage of advanced disease. MYCN amplification identifies high-risk patients. To assess neuroblastoma tumors with MYCN amplification we used paraffin-embedded tissue sections in 57 patients and intraoperative tumor imprints in 10 patients by fluorescence in situ hybridization (FISH). Positive results for MYCN amplification have been observed in twelve patients' paraffin-embedded tissue sections and in three patients' intraoperative tumor imprints, which represents 22.4% of all patients tested in the analysis. Fluorescence in situ hybridization is a highly sensitive and useful technique for detecting MYCN amplification on paraffin-embedded tissue sections of neuroblastoma tumors and intraoperative tumor imprints thus facilitating therapeutic decisions based on the presence or absence of this important biologic marker. The presence of structural changes, regardless of MYCN gene amplification status, influences the clinical behavior of neuroblastoma. High-Density SNP Arrays have emerged as the perfect tools for detecting these changes due to their exceptional accuracy, sensitivity and ability to analyze copy number and allele information. Consequently, they are proven to be highly valuable in the genomic diagnosis of immature neuroectodermal tumors.

A high-density genome-wide approach reveals novel genetic markers linked to small ruminant lentivirus susceptibility in sheep.

Visna/Maedi virus (VMV) is lentiviral disease of sheep responsible for severe production losses. Multiple genomic regions associated with infection were reported indicating genetic complexity. In this study, a combined genome-wide approach using a high-density SNP array has been performed, comparing VMV-infected (n = 78) and non-infected (n = 66) individuals of the Valle del Belice breed. The serological tests showed a seroprevalence of 26%. The comparison among results from different approaches (GWAS, Fisher's exact test and the FST analysis) revealed two association signals: on OAR03 close to the GRIN2B gene and on OAR05 close to the TMEM232 gene. To the best of our knowledge, there has been no previous association between these genes and lentiviral infection in any species. The GRIN2B gene plays a role in pain response, synaptic transmission, and receptor clustering, while TMEM232 is involved in the development of immune-related disorders. The results highlighted new aspects of the genetic complexity related to the resistance/susceptibility to VMV in sheep, confirming that studies on different breeds can lead to different results. The ideal approach for validation of the markers identified in our study is to use samples from a population independent from the discovery population with the same phenotype used in the discovery stage.

Microhaplotypes generate higher breeding value accuracy compared to SNPs for imputation-based breeding strategies

The cost of genotyping remains a persistent barrier to the adoption of genomic selection for many breeding programs. This is particularly prominent in the aquaculture industry because the high number and diversity of cultured species impedes the reduction of genotyping costs through a shared genetic panel (e.g., a high-density SNP array). One solution is to reserve high-density genotyping for key individuals and apply a low-density SNP panel along with pedigree-informed imputation to the remaining individuals. We examined the possibility of further lowering the cost of this strategy by targeting microhaplotypes instead of SNPs in the low-density panel, which could allow smaller panels to be used. We simulated Pacific oyster, eastern oyster, and Atlantic salmon breeding programs for three generations and compared imputation and GEBV accuracy using low-density panels targeting SNPs or microhaplotypes. Panels targeting microhaplotypes yielded higher imputation and GEBV accuracy than that of equally sized panels targeting SNPs. In the Pacific and eastern oyster simulations, close to the maximum imputation and GEBV accuracy was reached when the low-density panel contained 150–250 microhaplotypes or 350–450 SNPs. In the Atlantic salmon simulations, this level of accuracy was reached with low-density panels of 350–450 microhaplotypes or 650–750 SNPs. Using low-density panels targeting microhaplotypes instead of SNPs can reduce the cost of genotyping and thereby make genomic selection feasible for a wider range of programs.

Imputation strategies for genomic prediction using nanopore sequencing

BackgroundGenomic prediction describes the use of SNP genotypes to predict complex traits and has been widely applied in humans and agricultural species. Genotyping-by-sequencing, a method which uses low-coverage sequence data paired with genotype imputation, is becoming an increasingly popular SNP genotyping method for genomic prediction. The development of Oxford Nanopore Technologies’ (ONT) MinION sequencer has now made genotyping-by-sequencing portable and rapid. Here we evaluate the speed and accuracy of genomic predictions using low-coverage ONT sequence data in a population of cattle using four imputation approaches. We also investigate the effect of SNP reference panel size on imputation performance.ResultsSNP array genotypes and ONT sequence data for 62 beef heifers were used to calculate genomic estimated breeding values (GEBVs) from 641 k SNP for four traits. GEBV accuracy was much higher when genome-wide flanking SNP from sequence data were used to help impute the 641 k panel used for genomic predictions. Using the imputation package QUILT, correlations between ONT and low-density SNP array genomic breeding values were greater than 0.91 and up to 0.97 for sequencing coverages as low as 0.1 × using a reference panel of 48 million SNP. Imputation time was significantly reduced by decreasing the number of flanking sequence SNP used in imputation for all methods. When compared to high-density SNP arrays, genotyping accuracy and genomic breeding value correlations at 0.5 × coverage were also found to be higher than those imputed from low-density arrays.ConclusionsHere we demonstrated accurate genomic prediction is possible with ONT sequence data from sequencing coverages as low as 0.1 × , and imputation time can be as short as 10 min per sample. We also demonstrate that in this population, genotyping-by-sequencing at 0.1 × coverage can be more accurate than imputation from low-density SNP arrays.

Genome-wide association analysis of type II resistance to Fusarium head blight in common wheat.

Fusarium head blight (FHB) is a disease affecting wheat spikes caused by some Fusarium species and leads to cases of severe yield reduction and seed contamination. Identifying resistance genes/QTLs from wheat germplasm may help to improve FHB resistance in wheat production. Our study evaluated 205 elite winter wheat cultivars for FHB resistance. A high-density 90K SNP array was used for genotyping the panel. A genome-wide association study (GWAS) from cultivars from three different environments was performed using a mixed linear model (MLM). Sixty-six significant marker-trait associations (MTAs) were identified (P<0.001) on fifteen chromosomes that explained the phenotypic variation ranging from 5.4 to 11.2%. Some important new MTAs in genomic regions involving FHB resistance were found on chromosomes 2A, 3B, 5B, 6A, and 7B. Six MTAs at 92 cM on chromosome 7B were found in cultivars from two different environments. Moreover, there were 11 MTAs consistently associated with diseased spikelet rate and diseased rachis rate as pleiotropic effect loci and D_contig74317_533 on chromosome 5D was novel for FHB resistance. Eight new candidate genes of FHB resistance were predicated in wheat in this study. Three candidate genes, TraesCS5D02G006700, TraesCS6A02G013600, and TraesCS7B02G370700 on chromosome 5DS, 6AS, and 7BL, respectively, were perhaps important in defending against FHB by regulating intramolecular transferase activity, GTP binding, or chitinase activity in wheat, but further validation in needed. In addition, a total of five favorable alleles associated with wheat FHB resistance were discovered. These results provide important genes/loci for enhancing FHB resistance in wheat breeding by marker-assisted selection.

Evidence of differentiation and population structure in Charolais cattle of Mexico.

Charolais is one of the most important beef cattle breeds in the world. In Mexico, it was introduced almost a century ago, and it has been suggested that particular breeding management and genetic material origin have caused a process of divergence among the current population. By a high-density SNP array genome-wide analysis, this study aimed to assess the proposed differentiation and population structure of local populations by genetic distances and structure approaches, and a European Charolais sample was included as a reference population. The differentiation statistics indicated that local populations exhibit moderate divergence, confirming a significant differentiation process between northeastern and northwestern Charolais populations (Fst≥ 0.043, D≥ 0.031). These results were strongly supported by PCA and structure analysis. Genetic isolation and low genetic flow between populations and divergent origins of introduced genetic material (i.e., semen) are likely the main drivers of the outcomes. Some implications are discussed.

Landmarks in the history of selective sweeps.

Half a century ago, a seminal article on the hitchhiking effect by Smith and Haigh inaugurated the concept of the selection signature. Selective sweeps are characterised by the rapid spread of an advantageous genetic variant through a population and hence play an important role in shaping evolution and research on genetic diversity. The process by which a beneficial allele arises and becomes fixed in a population, leading to a increase in the frequency of other linked alleles, is known as genetic hitchhiking or genetic draft. Kimura's neutral theory and hitchhiking theory are complementary, with Kimura's neutral evolution as the 'null model' and positive selection as the 'signal'. Both are widely accepted in evolution, especially with genomics enabling precise measurements. Significant advances in genomic technologies, such as next-generation sequencing, high-density SNP arrays and powerful bioinformatics tools, have made it possible to systematically investigate selection signatures in a variety of species. Although the history of selection signatures is relatively recent, progress has been made in the last two decades, owing to the increasing availability of large-scale genomic data and the development of computational methods. In this review, we embark on a journey through the history of research on selective sweeps, ranging from early theoretical work to recent empirical studies that utilise genomic data.

Assessing Genomic Diversity and Signatures of Selection in Chinese Red Steppe Cattle Using High-Density SNP Array.

Chinese Red Steppe Cattle (CRS), a composite cattle breed, is well known for its milk production, high slaughter rate, carcass traits, and meat quality. Nowadays, it is widely bred in Jilin and Hebei Province and the Inner Mongolia Autonomous region. However, the population structure and the genetic basis of prominent characteristics of CRS are still unknown. In this study, we systematically describe their population structure, genetic diversity, and selection signature based on genotyping data from 61 CRS individuals with GGP Bovine 100 K chip. The results showed that CRS cattle had low inbreeding levels and had formed a unique genetic structure feature. Using two complementary methods (including comprehensive haplotype score and complex likelihood ratio), we identified 1291 and 1285 potentially selected genes, respectively. There were 141 genes annotated in common 106 overlapping genomic regions covered 5.62 Mb, including PLAG1, PRKG2, DGAT1, PARP10, TONSL, ADCK5, and BMP3, most of which were enriched in pathways related to muscle growth and differentiation, milk production, and lipid metabolism. This study will contribute to understanding the genetic mechanism behind artificial selection and give an extensive reference for subsequent breeding.

Development and applications of the Oil Palm 78K Infinium® HD SNP Array for linkage analysis and chromosome scanning

High-throughput and high-density (HD) genetic marker genotyping systems are critical to optimize the efficiency of oil palm breeding and improvement programmes. This study reports the development of the 78 K Infinium® HD customized SNP array, which was used to genotype a thousand palms of a commercial Deli dura x AVROS pisifera family. A total 64,108 (∼82.0%) polymorphic SNP markers were identified of which, 57, 465 (89.6%) were mapped onto the genetic map that has the largest number of markers published so far in oil palm and holds 14,781 SNPs on 2,363 orphan scaffolds (whose chromosomal locations were unknown), which will improve the existing oil palm reference genome (EG5.1). The SNPs were highly informative based on the parent-to-progeny allelic inheritance analysis. The data demonstrated that 4.3% of the progeny resulted from unintentional self-fertilization of the dura female parent. These unintended ‘selfs’ are highly inbred, which will affect their yield. This study also for the first time, describes the homozygosity in the Deli dura and AVROS pisifera, two important parental lines widely used in commercial seed production. As expected, both the parental palms were highly homozygous, having 138 Mb homozygous regions in common, with 70.3% identical alleles. Such a detailed genetic analysis of the individual palm has been made possible with this customized HD SNP array, which will be a valuable tool for routine application in oil palm improvement programmes. The strategy used to design and apply the array will also be of interest for wider scientific research.

Using High-Density SNP Array to Investigate Genetic Relationships and Structure of Apple Germplasm in Bosnia and Herzegovina

Apple accessions, currently maintained within the two main ex situ collections in Bosnia and Herzegovina (B&amp;H), have previously been genotyped using microsatellite markers. The obtained molecular data provided insight into mislabeled accessions and redundancies, as well as the overall genetic structure of the germplasm. The available dataset enabled the creation of a core collection consisting of 52 accessions. The reliability and usefulness of microsatellites has made this low-density marker system a norm in studies on apple germplasm. However, the increased access to medium- and high-density SNP arrays, developed specifically for apples, has opened new avenues of research into apple genetic resources. In this study, 45 apple genotypes consisting of 33 diploid core collection accessions from B&amp;H and 12 international reference cultivars were genotyped using an Axiom® Apple 480 K SNP array in order to examine their genetic relationships, population structure and diversity, as well as to compare the obtained results with those calculated on previously reported SSR profiles. The SNPs displayed a better ability to differentiate apple accessions based on their origin, as well as to cluster them according to their pedigree. Calculating identity by descent revealed 16 pairings with first-degree relationships and uncovered the introgression of ‘Delicious’ and ‘Golden Delicious’ into the core collection.

An international wheat diversity panel reveals novel sources of genetic resistance to tan spot in Australia

Key messageNovel sources of genetic resistance to tan spot in Australia have been discovered using one-step GWAS and genomic prediction models that accounts for additive and non-additive genetic variation.Tan spot is a foliar disease in wheat caused by the fungal pathogen Pyrenophora tritici-repentis (Ptr) and has been reported to generate up to 50% yield losses under favourable disease conditions. Although farming management practices are available to reduce disease, the most economically sustainable approach is establishing genetic resistance through plant breeding. To further understand the genetic basis for disease resistance, we conducted a phenotypic and genetic analysis study using an international diversity panel of 192 wheat lines from the Maize and Wheat Improvement Centre (CIMMYT), the International Centre for Agriculture in the Dry Areas (ICARDA) and Australian (AUS) wheat research programmes. The panel was evaluated using Australian Ptr isolates in 12 experiments conducted in three Australian locations over two years, with assessment for tan spot symptoms at various plant development stages. Phenotypic modelling indicated high heritability for nearly all tan spot traits with ICARDA lines displaying the greatest average resistance. We then conducted a one-step whole-genome analysis of each trait using a high-density SNP array, revealing a large number of highly significant QTL exhibiting a distinct lack of repeatability across the traits. To better summarise the genetic resistance of the lines, a one-step genomic prediction of each tan spot trait was conducted by combining the additive and non-additive predicted genetic effects of the lines. This revealed multiple CIMMYT lines with broad genetic resistance across the developmental stages of the plant which can be utilised in Australian wheat breeding programmes to improve tan spot disease resistance.

Elucidating the Genetic Relationships on the Original Old Sicilian Triticum Spp. Collection by SNP Genotyping.

Several Triticum species spread in cultivation in Sicily and neighboring regions over the centuries, which led to the establishment of a large genetic diversity. Many ancient varieties were widely cultivated until the beginning of the last century before being replaced by modern varieties. Recently, they have been reintroduced in cultivation in Sicily. Here, the genetic diversity of 115 and 11 accessions from Sicily and Calabria, respectively, belonging to Triticum species was evaluated using a high-density SNP array. Einkorn, emmer, and spelta wheat genotypes were used as outgroups for species and subspecies; five modern varieties of durum and bread wheat were used as references. A principal coordinates analysis (PCoA) and an unweighted pair group method with arithmetic mean (UPGMA) showed four distinct groups among Triticum species and T. turgidum subspecies. The population structure analysis distinguished five gene pools, among which three appeared private to the T. aestivum, T. turgidum subsp. Turgidum, and 'Timilia' group. The principal component analysis (PCA) displayed a bio-morphological trait relationship of a subset (110) of ancient wheat varieties and their wide variability within the T. turgidum subsp. durum subgroups. A discriminant analysis of principal components (DAPC) and phylogenetic analyses applied to the four durum wheat subgroups revealed that the improved varieties harbored a different gene pool compared to the most ancient varieties. The 'Russello' and 'Russello Ibleo' groups were distinguished; both displayed higher genetic variability compared to the 'Timilia' group accessions. This research represents a comprehensive approach to fingerprinting the old wheat Sicilian germplasm, which is useful in avoiding commercial fraud and sustaining the cultivation of landraces and ancient varieties.

Status and prospects of genome-wide association studies in cotton.

Over the last two decades, the use of high-density SNP arrays and DNA sequencing have allowed scientists to uncover the majority of the genotypic space for various crops, including cotton. Genome-wide association study (GWAS) links the dots between a phenotype and its underlying genetics across the genomes of populations. It was first developed and applied in the field of human disease genetics. Many areas of crop research have incorporated GWAS in plants and considerable literature has been published in the recent decade. Here we will provide a comprehensive review of GWAS studies in cotton crop, which includes case studies on biotic resistance, abiotic tolerance, fiber yield and quality traits, current status, prospects, bottlenecks of GWAS and finally, thought-provoking question. This review will serve as a catalog of GWAS in cotton and suggest new frontiers of the cotton crop to be studied with this important tool.

Development of image-based wheat spike counter through a Faster R-CNN algorithm and application for genetic studies

Spike number (SN) per unit area is one of the major determinants of grain yield in wheat. Development of high-throughput techniques to count SN from large populations enables rapid and cost-effective selection and facilitates genetic studies. In the present study, we used a deep-learning algorithm, i.e., Faster Region-based Convolutional Neural Networks (Faster R-CNN) on Red-Green-Blue (RGB) images to explore the possibility of image-based detection of SN and its application to identify the loci underlying SN. A doubled haploid population of 101 lines derived from the Yangmai 16/Zhongmai 895 cross was grown at two sites for SN phenotyping and genotyped using the high-density wheat 660K SNP array. Analysis of manual spike number (MSN) in the field, image-based spike number (ISN), and verification of spike number (VSN) by Faster R-CNN revealed significant variation (P < 0.001) among genotypes, with high heritability ranged from 0.71 to 0.96. The coefficients of determination (R2) between ISN and VSN was 0.83, which was higher than that between ISN and MSN (R2 = 0.51), and between VSN and MSN (R2 = 0.50). Results showed that VSN data can effectively predict wheat spikes with an average accuracy of 86.7% when validated using MSN data. Three QTL Qsnyz.caas-4DS, Qsnyz.caas-7DS, and QSnyz.caas-7DL were identified based on MSN, ISN and VSN data, while QSnyz.caas-7DS was detected in all the three data sets. These results indicate that using Faster R-CNN model for image-based identification of SN per unit area is a precise and rapid phenotyping method, which can be used for genetic studies of SN in wheat.

Genome-wide association study reveals a NAC transcription factor TaNAC074 linked to pre-harvest sprouting tolerance in wheat.

Twelve QTL associated with pre-harvest sprouting tolerance were identified using association analysis in wheat. Two markers were validated and a candidate gene TaNAC074 for Qgpf.cas-3B.2 was verified using Agrobacterium-mediated transformation. Pre-harvest sprouting (PHS) is a considerable global threat to wheat yield and quality. Due to this threat, breeders must identify quantitative trait loci (QTL) and genes conferring PHS-tolerance (PHST) to reduce the negative effects of PHS caused by low seed dormancy. In this study, we evaluated a panel of 302 diverse wheat genotypes for PHST in four environments and genotyped the panel with a high-density wheat 660K SNP array. By using a genome-wide association study (GWAS), we identified 12 stable loci significantly associated with PHST (P < 0.0001), explaining 3.34 - 9.88% of the phenotypic variances. Seven of these loci co-located with QTL and genes reported previously. Five loci (Qgpf.cas-3B.2, Qgpf.cas-3B.3, Qgpf.cas-3B.4, Qgpf.cas-7B.2, and Qgpf.cas-7B.3), located in genomic regions with no known PHST QTL or genes, are likely to be new QTL conferring PHST. Additionally, two molecular markers were developed for Qgpf.cas-3A and Qgpf.cas-7B.3, and validated using a different set of 233 wheat accessions. Finally, the PHST-related function of candidate gene TaNAC074 for Qgpf.cas-3B.2 was confirmed by CAPS (cleaved amplified polymorphic sequences) marker association analysis in 233 wheat accessions and by expression and phenotypic analysis of transgenic wheat. Overexpression of TaNAC074 significantly reduced seed dormancy in wheat. This study contributes to broaden the genetic basis and molecular marker-assisted breeding of PHST.

Detecting Local Adaptation between North and South European Atlantic Salmon Populations.

Simple SummaryAtlantic salmon is a diadromous species that has the particularity that it returns to reproduce to its river of birth. This means that, in most cases, each river can be considered a population and that these populations can be adapted to the characteristics of the river. The Atlantic Salmon in the rivers of the Iberian Peninsula has been in decline since the 80’s of the last century. At that time, to alleviate the decline in the number of individuals, the rivers were stocked with salmon from Scotland and other northern European rivers, but the result was not positive. In this work, we studied eight salmon populations using a 220,000 high-density SNP array (Affymetrix) specific to Atlantic salmon. Our results revealed potential evidence of local adaptation for North Spanish and Scottish populations, which may be the cause of the failure of restocking programs. In addition, by performing a review of previous studies, we demonstrated that, as suggested, NADP-dependent malic enzyme-2 is a candidate for local adaptation in salmon from the Iberian Peninsula.Pollution and other anthropogenic effects have driven a decrease in Atlantic salmon (Salmo salar) in the Iberian Peninsula. The restocking effort carried out in the 1980s, with salmon from northern latitudes with the aim of mitigating the decline of native populations, failed, probably due to the deficiency in adaptation of foreign salmon from northern Europe to the warm waters of the Iberian Peninsula. This result would imply that the Iberian populations of Atlantic salmon have experienced local adaptation in their past evolutionary history, as has been described for other populations of this species and other salmonids. Local adaptation can occur by divergent selections between environments, favoring the fixation of alleles that increase the fitness of a population in the environment it inhabits relative to other alleles favored in another population. In this work, we compared the genomes of different populations from the Iberian Peninsula (Atlantic and Cantabric basins) and Scotland in order to provide tentative evidence of candidate SNPs responsible for the adaptive differences between populations, which may explain the failures of restocking carried out during the 1980s. For this purpose, the samples were genotyped with a 220,000 high-density SNP array (Affymetrix) specific to Atlantic salmon. Our results revealed potential evidence of local adaptation for North Spanish and Scottish populations. As expected, most differences concerned the comparison of the Iberian Peninsula with Scotland, although there were also differences between Atlantic and Cantabric populations. A high proportion of the genes identified are related to development and cellular metabolism, DNA transcription and anatomical structure. A particular SNP was identified within the NADP-dependent malic enzyme-2 (mMEP-2*), previously reported by independent studies as a candidate for local adaptation in salmon from the Iberian Peninsula. Interestingly, the corresponding SNP within the mMEP-2* region was consistent with a genomic pattern of divergent selection.

Genetic Analysis of a Collection of Rice Germplasm (Oryza sativa L.) through High-Density SNP Array Provides Useful Information for Further Breeding Practices

Traditional breeding strategies mainly focus on the evaluation of trait performance, but pay less attention to the changing genetic background. A comprehensive understanding of the genetic diversity of germplasms is crucial for the deliberate improvement of specific traits. A collection of 154 highland rice varieties were collected as the initial genetic resource in our breeding program to improve the pathogen resistance and eating and cooking qualities. These varieties were analyzed using a whole-genome SNP array and were clustered into three groups. Further analysis revealed that the favorable alleles of pathogen resistance genes are mostly absent in our collected varieties. However, it showed that most varieties possess favorable alleles of Waxy (Wx) and ALKALI DEGENERATION (ALK), which are able to enhance the eating and cooking qualities. Moreover, only about one fifth of all varieties harbors favorable the allele of fragrance gene Betaine aldehyde dehydrogenase (BADH2). Together, these results give an overall view of the genetic constitution of the target traits, which provide useful information for future genetic improvement in breeding practices.

Identification of IKZF1plus microdeletion profile in childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL) using single nucleotide polymorphism (SNP) array

Genetic abnormalities detected in the leukemic genome became essential prognostic factors stratifying the intensity of treatment in children with acute lymphoblastic leukemia (ALL). However, only selected copy number alterations are independently associated with the clinical course of disease. Deletions within the &lt;i&gt;IKZF1&lt;/i&gt; gene significantly confer to poor dzieprognosis of ALL, particularly when cooccurred with deletions of &lt;i&gt;CDKN2A/ B&lt;/i&gt;, &lt;i&gt;PAX5&lt;/i&gt;, and genes from PAR1 region and the concomitant lack of ERG gene deletion is present. In the project, high-density SNP array were tested on 195 childhood BCP-ALL samples to optimize the detection of copy number alterations within selected gene loci. Developed experimental protocol and data analysis enabled identification of clonal and mosaic forms of &lt;i&gt;IKZF1&lt;/i&gt; deletions.