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SNP genotype matrix for GWAS and Machine Learning analyses
<p><strong>SNP datasets used for GWAS and Machine Learning analyses</strong></p> <p>All datasets come from the easyGWAS website: <a href="https://easygwas.ethz.ch/down/1/">https://easygwas.ethz.ch/down/1/</a></p> <p> </p> <p><strong>=== Horton et al. 2012 ===</strong></p> <p><strong>1307 Arabidopsis genotypes x 214,057</strong> <strong>SNPs</strong></p> <p><strong>1) In the form of a genotype matrix </strong></p> <p>The file is called <a href="https://zenodo.org/api/files/d862e79f-02f2-4176-9b8e-04e48a2cf72c/horton2012.raw?versionId=2b05fb8d-b486-4f00-b7bf-bb024b892dc9">Horton2012.raw</a></p> <p><a href="https://www.nature.com/articles/ng.1042">https://www.nature.com/articles/ng.1042</a></p> <p>Preview of the first lines and columns:</p> <p>FID Chr1_657_T Chr1_3102_G Chr1_4648_A Chr1_4880_T Chr1_5975_G Chr1_6063_T Chr1_6449_C<br> 9381 2 2 2 0 0 0 0<br> 9380 0 0 0 0 0 0 2<br> 9378 2 2 2 0 0 0 0<br> 9371 2 2 2 0 0 0 0<br> 9367 0 0 0 2 0 0 0<br> 9363 2 2 2 0 0 0 0<br> 9356 0 2 2 0 0 0 0<br> 9355 2 2 2 0 0 0 0<br> 9354 2 2 2 0 0 0 0</p> <p>...etc...</p> <p>PLINK 1.9 was used to convert the .ped and .map file to a .raw format with: </p> <pre><code class="language-bash">plink --file original_data/genotype --recodeA --tab</code></pre> <p>Genotypes are encoded as 0, 1 or 2 with:</p> <pre> SNP SNP_A --- ----- A A -> 0 A C -> 1 C C -> 2 0 0 -> NA </pre> <p>Then only the Family ID was kept (same as individual ID) and other columns (Paternal ID, Maternal ID, Sex, Phenotype) were removed.</p> <p>The corresponding PLINK manual page used is here: <a href="https://zzz.bwh.harvard.edu/plink/dataman.shtml#recode">https://zzz.bwh.harvard.edu/plink/dataman.shtml#recode</a></p> <p><strong>1) In the form of set of files compatible with PLINK out of the box</strong></p> <p>The archive file is called <a href="https://zenodo.org/api/files/b34fd40e-2db1-47b0-92c8-0ad51ad92d46/AtPolyDB_call_method_75_Horton2012.tar.gz">AtPolyDB_call_method_75_Horton2012.tar.gz</a> and contains three files:</p> <ul> <li>genotype.ped: pedigree information from the 1307 ecotypes</li> <li>genotype.map: the SNP positions on the genome</li> <li>phenotypes.pheno: the phenotype value of the 1307 ecotypes</li> </ul> <p> </p>
Illumina next generation ddRAD sequencing SNP data from: Contrasting genetic diversity and structure between endemic and widespread damselfishes are related to differing adaptive strategies
<p class="MsoNormal"><strong><u><span>Aim:</span></u></strong><span> Discerning when, where, and how processes of isolation lead to differing biogeography is especially complex for marine species with similar ecological niches and within the same geographic location. We assessed population genetics of congeneric and ecologically similar damselfishes within their overlapping distributions and across potential barriers to geneflow.</span></p> <p class="MsoNormal"> </p> <p class="MsoNormal"><strong><u><span>Taxon:</span></u></strong><span> <em>Dascyllus marginatus </em>(endemic) and <em>Dascyllus abudafur </em>(widespread)<em>.</em></span></p> <p class="MsoNormal"> </p> <p class="MsoNormal"><strong><u><span>Location:</span></u></strong><span> Coral reefs from the Red Sea, Djibouti, Yemen, Oman, and Madagascar. </span></p> <p class="MsoNormal"> </p> <p class="MsoNormal"><strong><u><span>Methods:</span></u></strong><span> We used RADseq derived SNPs to investigate key differences in population genetics between both species and discuss barriers shaping genetic differentiation (neutral vs. selective) and biogeography. </span></p> <p class="MsoNormal"> </p> <p class="MsoNormal"><strong><u><span>Results:</span></u></strong><strong><span> </span></strong><em><span>Dascyllus marginatus </span></em><span>inhabited the Red Sea, the coasts of Yemen (including Socotra), and the Gulf of Oman. <em>Dascyllus abudafur</em> species was present from the Red Sea to Madagascar but was absent from Yemen and Oman. Populations of <em>D. marginatus </em>had an order of magnitude higher genetic differentiation compared to <em>D. abudafur</em>, as well as several outlier loci (suggesting selective pressure), which were absent in <em>D. abudafur</em> despite equal sampling locations. In both species, specimens from the Red Sea and Djibouti formed one genetic cluster separated from all other locations. </span></p> <p class="MsoNormal"> </p> <p class="MsoNormal"><strong><u><span>Main conclusions:</span></u></strong><span> The stronger genetic structure at smaller geographic scale of the endemic species seems associated to faster adaptation to environmental differences; whereas the widespread species only experienced reduced geneflow and neutral differentiation at much larger geographic scales. Restrictive transitions (between the Gulf of Aqaba and the Red Sea or the Red Sea and the Gulf of Aden) did not affect the genetic architecture of either species, while the environmental shift within the Red Sea (at 22°N/20°N) affected the endemic but not the widespread species. Samples from continental Yemen revealed that a genetic break in the Gulf of Aden likely reflects historical colonization processes and not contemporary environmental regimes.</span></p>
Transitioning from microsatellites to SNP-based microhaplotypes in genetic monitoring programs: lessons from a 20-year time series of paired data.
<p>Many long-term genetic monitoring programs began before next-generation sequencing became widely available. Older programs can now transition to new marker systems usually consisting of 1000s of SNP loci, but there are still important questions about comparability, precision, and accuracy of key metrics estimated using SNPs. Ideally, transitioned programs should capitalize on new information without sacrificing continuity of inference across the time series. We combined existing microsatellite-based genetic monitoring information with SNP-based microhaplotypes obtained from archived samples of Rio Grande silvery minnow (<em>Hybognathus amarus</em>) across a 20-year time series to evaluate point estimates and trajectories of key genetic metrics. Demographic and genetic monitoring bracketed multiple collapses of the wild population, and included cases where captive-born repatriates comprised the majority of spawners in the wild. Even with smaller sample sizes, microhaplotypes yielded comparable and in some cases more precise estimates of variance genetic effective population size, multilocus heterozygosity and inbreeding compared to microsatellites because many more microhaplotype loci were available. Microhaplotypes also recorded shifts in allele frequencies associated with population bottlenecks. Trends in microhaplotype-based inbreeding metrics were associated with the fraction of hatchery-reared repatriates to the wild, and should be incorporated into future genomic monitoring. Although differences in accuracy and precision of some metrics were observed between marker types, biological inferences and management recommendations were consistent.</p>
Contrasting levels of hybridization across the two contact zones between two hedgehog species revealed by genome-wide SNP data
<p>Hybridization and introgression have played important roles in the history of various species, including lineage diversification and the evolution of adaptive traits. Hybridization can accelerate the development of reproductive isolation between diverging species, and thus valuable insight into the evolution of reproductive barrier formation may be gained by studying secondary contact zones. Hedgehogs of the genus <em>Erinaceus</em>, which are insectivores sensitive to changes in climate, are a pioneer model in Pleistocene phylogeography. The present study provides the first genome-wide SNP data regarding the <em>Erinaceus</em> hedgehogs species complex, offering a unique comparison of two secondary contact zones between <em>Erinaceus</em> <em>europaeus</em> and <em>E</em>. <em>roumanicus</em>. Results confirmed diversification of the genus during the Pleistocene period and detected a new refugial lineage of <em>E</em>. <em>roumanicus</em> outside the Mediterranean region, most likely in the Ponto-Caspian region. In the Central European zone, the level of hybridization was low, whereas in the Russian-Baltic zone, both species hybridise extensively. Asymmetrical gene flow from <em>E</em>. <em>europaeus</em> to <em>E</em>. <em>roumanicus</em> suggests that reproductive isolation varies according to the direction of the crosses in the hybrid zones. However, no loci with significantly different patterns of introgression were detected. Markedly different pre- and post-zygotic barriers, and thus diverse modes of species boundary maintenance in the two contact zones, likely exist. This pattern is probably a consequence of the different ages and thus of the different stages of evolution of reproductive isolating mechanisms in each hybrid zone.</p>
Root:shoot ratio GWAS Arabidopsis 4M SNP mapping
<p>The Genome Wide Association Study output files mapped using the root:shoot ratio data collected on Arabidopsis HapMap population. The GWAS was run using the ASReml script as described in Awlia et al., 2021 (<a href="https://doi.org/10.1111/tpj.15310">https://doi.org/10.1111/tpj.15310</a>). The GWAS analysis was performed by Magdalena Julkowska at King Abdullah University during her postdoc in the group of Dr. Mark Tester. </p>
Root:shoot ratio GWAS Arabidopsis 250k SNP mapping
<p>The Genome Wide Association Study output files mapped using the root:shoot ratio data collected on Arabidopsis HapMap population. The GWAS was run using the ASReml script as described in Awlia et al., 2021 (<a href="https://doi.org/10.1111/tpj.15310">https://doi.org/10.1111/tpj.15310</a>). The GWAS analysis was performed by Magdalena Julkowska at King Abdullah University during her postdoc in the group of Dr. Mark Tester. </p>
Plant virus SNP prediction artificial dataset Performance Study
<p>Recent developments in high-throughput sequencing (HTS) technologies and bioinformatics have drastically changed research on viral pathogens, especially for virus discovery and monitoring. Indeed, proper monitoring of the viral population requires information on the different isolates circulating in the studied area. For this purpose, HTS technologies have greatly facilitated the generation of new genomes of the detected viruses and their comparison. Nevertheless, the bioinformatics analyses allowing the reconstruction of genomes and the detection of Single Nucleotide Polymorphisms (SNPs) can potentially create bias, although it has not been widely addressed so far. </p> <p>Therefore, more knowledge is required on the limitation and possibility of predicting SNPs based on HTS-generated sequence datasets. To address this issue, we compared the ability of 14 plant virology laboratories, each employing a different bioinformatics pipeline, to detect 21 variants of pepino mosaic virus (PepMV) through large-scale Performance Testing (PT) using three artificially designed datasets. The bioinformatics analyses were divided into three key steps: reads pre-processing (quality trimming, merging …), virus identification (assembly, alignment, mapping …) and variant calling. Each step was evaluated independently through an original, step-by-step PT design with iteration between participants. </p> <p>Overall, this work underlines key parameters in SNP detection and proposes recommendations for reliable variant calling for plant viruses. The identification of the closest reference, mapping parameters and manual validation of the prediction were the most impactful analysis step for the success or failure of the predictions. Strategies to improve SNPs prediction are also discussed. </p>
Speciation in coastal basins driven by staggered headwater captures: Dispersal of a species complex, Leporinus bahiensis, as revealed by genome-wide SNP data
<p>Past sea level changes and geological instability along watershed boundaries have largely influenced fish distribution across coastal basins, either by dispersal via palaeodrainages now submerged or by headwater captures, respectively. Accordingly, the South American Atlantic coast encompasses several small and isolated drainages that share a similar species composition, representing a suitable model to infer historical processes. <em>Leporinus</em> <em>bahiensis</em> is a freshwater fish species widespread along adjacent coastal basins over narrow continental shelf with no evidence of palaeodrainage connections at low sea level periods. Therefore, this study aimed to reconstruct its evolutionary history to infer the role of headwater captures in the dispersal process. To accomplish this, we employed molecular-level phylogenetic and population structure analyses based on Sanger sequences (5 genes) and genome-wide SNP data. Phylogenetic trees based on Sanger data were inconclusive, but SNPs data did support the monophyletic status of <em>L. bahiensis</em>. Both COI and SNP data revealed structured populations according to each hydrographic basin. Species delimitation analyses revealed from 3 (COI) to 5 (multilocus approach) MOTUs, corresponding to the sampled basins. An intricate biogeographic scenario was inferred and supported by Approximate Bayesian Computation (ABC) analysis. Specifically, a staggered pattern was revealed and characterized by sequential headwater captures from basins adjacent to upland drainages into small coastal basins at different periods. These headwater captures resulted in dispersal throughout contiguous coastal basins, followed by deep genetic divergence among lineages. To decipher such recent divergences, as herein represented by <em>L. bahiensis </em>populations, we used genome-wide SNPs data. Indeed, the combined use of genome-wide SNPs data and ABC method allowed us to reconstruct the evolutionary history and speciation of <em>L. bahiensis</em>. This framework might be useful in disentangling the diversification process in other neotropical fishes subject to a reticulate geological history. </p>
Intraspecific genome SNP frequencies comparison
<p><span>Genome sequence analyses can provide crucial for understanding the origin and spread of infectious diseases, population history, speciation, and taxonomy. In Class Agaricomycete where most mushroom-forming fungi belong, most species so far have been defined based on morphological, ecological, and/or molecular features, but there is no defined threshold for any type of features that can be applied across multiple genera, families, and orders. In this study, we investigated genome-wide single nucleotide polymorphism (SNP) frequencies within species to understand the patterns of variation within both the nuclear and mitochondrial genomes of the current whole-genome sequenced species. In total, our analyses included 398 and 106 published available nuclear and mitochondrial genomes of Agaricomycetes, respectively. The SNP frequencies among nuclear genomes within individual species ranged 0.00~7.69% while for the mitochondrial genome comparison, the intraspecific SNP frequencies ranged 0.00~4.41%. The Spearman's non-parametric rank correlation test showed a weak but statistically significant positive correlation between the paired nuclear and mitochondrial genome datasets</span><span>. </span><span>Overall, we observed a significantly higher SNP frequency in the nuclear genome than in the mitochondrial genomes between strains within most species</span><span>. </span><span>Interestingly, across the broad Basidiomycetes, </span><span>the ratios of mitochondrial genome SNPs and nuclear genome SNPs between pairs of strains within each species were highly similar, with a mean of 0.24.</span> <span>We discuss the implications of these results for Agaricomycetes systematics and the implementation of genome sequence-based species delimitation in fungi.</span></p>
Genetic diversity and population structure from a Peruvian nucleus cattle herd using SNP data
<p>New-generation sequencing technologies, among them SNP chips for massive genotyping, have proven to be useful for the effective management of genetic resources. Also, developing nucleus herds is an effective method for genetic improvement work. To date, molecular studies in Peruvian cattle are still in their infancy. To close this gap, we here employed two SNP panels (BovineHD and Bovine100K) to determine for the first time the Peruvian nucleus herd's genetic diversity and population structure that belong to INIA. This nucleus comprises Brahman (N=16), Braunvieh (N=14), Gyr (N=11), and Fleckvieh (N=22) breeds. Additionally, samples from a locally adapted creole cattle, the Arequipa Fighting Bull (AFB, N=12), were incorporated into the study. The genetic diversity indices in all breeds showed a high proportion of polymorphic SNPs, varying from 69.37% in Gyr to 80.81% in Braunvieh. Also, Braunvieh possessed the highest observed heterozygosity (0.53±0.17), while Brahman possessed the lowest (0.44±0.10), indicating that the former is more diverse compared to the other cattle breed groups. According to the molecular variance analysis, 83.92% of the variance occurs within individuals, whereas 16.0% occurs between populations. The pairwise FST estimates between breeds showed values that ranged from 0.054 (Braunvieh vs AFB) to 0.266 (Brahman vs AFB). Pairwise Reynold's distance showed a pattern similar to the one obtained with the FST statistics, with values ranging from 0.058 to 0.309. A dendrogram was constructed using the Neighbor-Joining clustering algorithm, and similar to the principal coordinate analysis, three groups were identified. Results showed a clear separation between <em>Bos</em> <em>indicus</em> (Brahman and Gyr) and <em>B</em>. <em>taurus</em> breeds (Braunvieh and Fleckvieh). For Fleckvieh and Braunvieh, there were two subgroups each one of them grouping with the AFB group. Similar results were obtained with ADMIXTURE analysis with K= 3 as the most optimal number for the inferred genetic structure of the populations. The results from the current study would contribute to the appropriate management avoiding loss of genetic variability in these breeds and to future improvements for this nucleus. Additional work is needed to speed up the breeding process in the Peruvian cattle system.</p>
Obuasi case study data: Performance of neutral SNP barcodes to determine genetic diversity and structure of Plasmodium falciparum in Africa
<p>A small number of informative biallelic single nucleotide polymorphisms (SNPs) have been proposed to be an economical method to fast-track the genotyping and relatedness analysis of <em>Plasmodium</em> <em>falciparum</em> in malaria-endemic areas. Whilst used successfully in low-transmission areas where infections are monoclonal and highly related, we present the first study to evaluate the performance of these 24- and 96-SNP molecular barcodes in African countries characterised by moderate-to-high transmission. Using haplotypes generated from the MalariaGEN <em>P. falciparum</em> Community Project version 6 database, 52.3% of infections were multiclonal, generating high frequencies of mixed-allele calls (MACs) per isolate. Both multiclonality and low heterozygosity of SNPs impeded haplotype construction for analyses of relatedness. Although fewer SNPs provided usable data, these SNP barcodes weakly identified genetic differentiation across large geographic distances. However, both minor and major alleles' frequencies were temporally unstable. We conclude that these standardised SNP barcodes are vulnerable to ascertainment bias. While large numbers of SNPs acquired by whole-genome sequencing and computational methods to construct haplotypes present a way forward, these approaches may not be practical or cost-effective for surveillance on large scales in malaria-endemic areas. </p>
Podarcis bocagei vs P. carbonelli hybrid zone SNP datasets from ddRADseq
<p>We used double digestion restriction site associated DNA (ddRAD) sequencing to discover SNPs in samples across a transect including a hybrid zone between <em>Podarcis carbonelli</em> and <em>Podarcis carbonelli</em>. <span>We used <em>P. bocagei</em> and <em>P. carbonelli</em> samples from the locations at the extremes of the transect as references. We obtained a SNP dataset including all SNPs after removing loci with depth coverage <8, missing data >20%, removing loci containing more than five SNPs, and with more than 70% heterozygosity (complete dataset; 6905 SNPs, 329 individuals). Additionally, we obtained</span> from the complete dataset two other datasets, prior to apply a missing data filter. One dataset contained loci with allele frequencies higher than 0.8 in the reference population containing only parental individuals of one species and lower than 0.2 in the reference population of the other species ("80/20" dataset; 2300 SNPs, 329 individuals); the other dataset comprised diagnostic SNPs between reference populations (diagnostic dataset; 1241 SNPs, 236 individuals) but excluding private alleles from references, i.e. excluding alleles that are not present in the populations of contact. Individuals with missing data >35% were removed from all datasets (the number of individuals reported for each dataset is after applying this filter, but note that the 80/20 and the diagnostic datasets were obtained before applying this filter to the complete dataset). Across datasets, average depth of coverage by individuals was 28 (median = 26.8, min = 12.5, max = 85.8) and by loci was 29 (median = 28.8; min = 15.6; max = 48.6). The analysis of replicate samples (four samples were replicated twice, i.e. were amplified and sequenced in independent libraries and SNP calling was performed independently) showed high levels (99.87%) of multilocus genotype replicability.</p>
(SNP Array) Single-Cell Multi-Omics Identifies Chronic Inflammation as a Driver of TP53 mutant Leukaemic Evolution
<p>Single nucleotide polymorphism (SNP) array data files related our publication titled "Single-Cell Multi-Omics Identifies Chronic Inflammation as a Driver of <em>TP53 </em>mutant Leukaemic Evolution".</p>
An over-dominant effect associated with an SNP in a TP63 regulatory region is implicated in susceptibility to non-syndromic orofacial clefts.
<p><strong>Background</strong>: Non-syndromic orofacial clefts (NSOC) are complex phenotypes, involving multiple low penetrance genetic and environmental factors. Using a candidate gene approach, we aimed to analyze the role of four single nucleotide polymorphisms (SNPs) in the susceptibility to NSOC.</p> <p><strong>Methods</strong>: A total of 254 individuals, 120 patients with NSOC, and 134 controls, all of Portuguese origin and non-consanguineous, were recruited. About 92% of patients had cleft lip with or without cleft palate (NSCL/P) and 8% had cleft palate (NSCP). Four SNPs in the <em>MTHFR</em>, <em>IRF6</em>, <em>PAX7,</em> and <em>TP63</em> genes were studied, using a real-time approach with TaqMan probes. Statistical analysis was performed with IBM SPSS Statistics and included chi-squared, Cochran test for trend and binomial logistic regression. Bonferroni correction was applied. Statistical significance was set to 0.05.</p> <p><strong>Results: </strong>All SNPs were in Hardy-Weinberg equilibrium. A significant statistical association was found for <em>TP63</em> rs9332461 in an over-dominant model (<em>p</em> = 0.016; OR 1.897 (1.144 - 3.147)).</p> <p><strong>Discussion and conclusion</strong>: Few SNPs have been so far identified in <em>TP63</em> in population association studies. In our sample, a significant association was only highlighted for rs9332461, localized in upstream regulatory region. Mechanisms involved in heterozygous advantage may underlie the association. </p>
Sample extraction and SNP sequencing data for: Identification of sex-linked SNP markers in wild populations of monomorphic birds
<p><span>Single-nucleotide polymorphism (SNP) analyses are a powerful tool for population genetics, pedigree reconstruction and phenotypic trait mapping. However, the untapped potential of SNP markers to discriminate the sex of individuals in species with reduced sexual dimorphism or of individuals during immature stages remains a largely unexplored avenue. Here, we develop a novel protocol for molecular sexing of birds based on the detection of unique Z- and W-linked SNP markers. Our method is based on the identification of two unique loci, one in each sexual chromosome. Individuals are considered males when they show no calls for the W-linked SNP and are heterozygotic or homozygotic for the Z-linked SNP, while females show both Z- and W-linked SNP calls. We validated the method in the Jackdaw (<em>Corvus</em> <em>monedula</em>). The reduced sexual dimorphism in this species makes it difficult to sex individuals in the wild. We assessed the reliability of the method using 36 individuals of known sex and found that their sex was correctly assigned in 100% of cases. The sex-linked markers also proved to be widely applicable to discriminate males and females from a sample of 927 genotyped individuals of different maturity stages with an accuracy of 99.5%. Given that SNP markers are increasingly used in quantitative genetic analyses of wild populations, the approach we propose has a great potential to be integrated into broader genetic research programmes without the need for additional sexing techniques.</span></p>
Pakistani historical wheat panel 37K SNP data
<p>A collection of 196 historical wheat cultivars of Pakistan released between 1911 to 2022 were subjected to DNA fingerprinting using 16K genotyping-by-targeted sequencing (GBTS) platform. This platform is based on NGS and the 16K probes were resequenced. The resequencing data was aligned to Chinese Spring RefSeq version 1.1 and SNPcalling was performed. This resulted in 37K mSNP (multiple SNPs) DNA fingerprinting data. This is thus far the most comprehensive DNA fingerprinting data of all released cultivars of wheat so far. This data is publically available and can be used in research and publications subject to the acknowledgement. </p>
A118G SNP and OPRM1 Gene Opioid-Mediated Effects in Humans
ClinicalTrials.gov study NCT02360371. IPD Sharing: Not stated. Countries: 1. Publications: 1.
MTNR1B SNP*Food Timing Interaction on Glucose Control
ClinicalTrials.gov study NCT03036592. IPD Sharing: NO. Countries: 1. Publications: 1.
SNP Study of DPP-4 and GLP-1R in Chinese People (Including Diabetes Patients)
ClinicalTrials.gov study NCT03108521. IPD Sharing: NO. Countries: 1. Publications: 3.
Is the USDA core collection of common bean representative of genetic diversity of the species, as assessed by SNP diversity?
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