how could snps contribute to gene regulation?

After 10,000 iterations we counted those instances where the number of shared items in the bootstrapped overlap is greater than or equal to the number of shared items in the observed overlap. Google Scholar. 1, Supplementary Table 3). Adult PPIs form three modules that were enriched in immune pathways and two unknown modules. Transcript levels for these genes are associated with 65 eQTLs in fetal cortex and 39 eQTLs in adult cortex (Supplementary Table 3). ADS 216, 310315 (2020). Increasing the number and sample sizes of the ASD GWAS studies will identify additional genetic variants which may help explain some of this missing heritability67. Gentile, C. et al. By contrast, immune-related genes that are associated with ASD-eQTLs within the fetal cortex have been implicated in the processing of both endogenous and exogenous antigens (Supplementary Table 7). They may be responsible for the diversity among individuals, geno SNPs: impact on gene function and phenotype 3, 9598 (2016). PubMed Central Wang J, Su W, Zhang T, Zhang S, Lei H, Ma F, Shi M, Shi W, Xie X, Di C. Cell Death Dis. Estes, M. L. & McAllister, A. K. Immune mediators in the brain and peripheral tissues in autism spectrum disorder. 2023 Apr;11(2):e003164. 57, 580594 (2015). Lai, M.-C., Lombardo, M. V. & Baron-Cohen, S. Autism. Science 376, eabf1970 (2022). Rau, S. et al. and transmitted securely. Notably, these regulatory elements are only associated with the expression (eQTL or expression quantitative trait locus) of the adjacent gene in ~40% of cases11. Prevalence and outcomes of young people with concurrent autism spectrum disorder and first episode of psychosis. The GTEx eQTL discovery (https://github.com/broadinstitute/gtex-pipeline/tree/master/qtl) pipeline was further used to calculate normalized gene expression and covariates. genes, whose expression levels are associated with a SNP). J. M. OSullivan. A new study highlights a strategy to link SNPs implicated in human complex traits and diseases with probable causal genes. Python (version 3.6.9), R (version 4.0.2) and RStudio (version 1.2.5033) were used for data analysis and visualisation. SNPs are, of course, already routinely used in human studies to test individual genes or genomic regions for their association with disease phenotypes. Correspondence to A large number of genes associated with various cancer types contain single nucleotide polymorphisms (SNPs). As eQTL patterns are tissue-specific, we are unable to extrapolate the results of this study to these tissues. We identified 80 eQTLs that are involved in 131 significant spatial eQTL-eGene interactions in fetal cortex; and 58 eQTLs that are associated with 67 significant spatial eQTL-eGene interactions in adult cortex (Fig. By contrast, adult ASD-associated eQTLs were located within quiescent/low transcribed (n=31) and weak transcription (n=15) regions (Fig. 44, 60466054 (2016). Autism, early psychosis, and social anxiety disorder: Understanding the role of social cognition and its relationship to disability in young adults with disorders characterized by social impairments. SNPs: impact on gene function and phenotype - PubMed An official website of the United States government. Fadason, T., Schierding, W., Lumley, T. & OSullivan, J. M. Chromatin interactions and expression quantitative trait loci reveal genetic drivers of multimorbidities. All genomic positions and SNP annotations were obtained for human genome reference build hg38 (GRCh38) release 75. As such, our results only represent snap-shots within the plastic neurodevelopmental trajectory69,70. 2, Supplementary Table 5). The integration of spatial and functional data represents a significant difference from other approaches where functional assignments for phenotype-associated SNPs are typically made to the gene that is closest to the phenotype-associated SNP72. J Recept Signal Transduct Res. SNP alleles in human disease and evolution. Mahfouz, A., Ziats, M. N., Rennert, O. M., Lelieveldt, B. P. F. & Reinders, M. J. T. Shared pathways among autism candidate genes determined by co-expression network analysis of the developing human brain transcriptome. spliceosome and splicing, aminoacyl-tRNA biosynthesis, and ribosome biogenesis) in the fetal cortex. Sci. There was significant enrichment (p<0.01, permutation test: 1000) of ASD-associated eQTLs within loci repressed by Polycomb proteins in the fetal cortex when compared to the adult cortex. Single Nucleotide Polymorphism (SNP) SNPs are variations that involve a change in just one nucleotide. Nat. However, it is not the only mechanism by which changes in the DNA sequence can contribute to ASD. Genetic variants were filtered based on HardyWeinberg equilibrium p<1106, minor allele frequency 0.01 and variant missing genotype rate 0.05. ASD-associated SNPs (p<5108, n=454) were downloaded from the GWAS Catalog (Supplementary Tables 1 and 2). Nature 518, 317330 (2015). 2022 Sep 16;13:942643. doi: 10.3389/fneur.2022.942643. Ensembl protein (STRING)33 and transcript identifiers (GTEx and Walker et al. Psychiatry 10, 77 (2020). If you are reading a news story where it says, for example, scientists find the genetic contributors to diabetes or some other condition or trait, you're probably reading about SNPS. trans-acting eQTLs)71. Google Scholar. The GTEx Consortium atlas of genetic regulatory effects across human tissues. 2009;29(5):286-91. doi: 10.1080/10799890902911948. SNPs) among conditions was counted for each bootstrap iteration. 3). Autism spectrum disorder (ASD) represents a heterogeneous group of closely related conditions that are characterized by early-appearing social communication deficits and restricted, repetitive or unusual sensory-motor behaviours1. 8600 Rockville Pike Silbereis, J. C., Pochareddy, S., Zhu, Y., Li, M. & Sestan, N. The cellular and molecular landscapes of the developing human central nervous system. Nature Genetics Thousands of disease-associated SNPs (daSNPs) are located in intergenic regions (IGR), making it difficult to understand their association with disease phenotypes. Consistent with this, we identified that ASD-associated genetic variants impact transcript levels for genes involved in fatty acid metabolism in the developing fetal cortex (1421 postconceptional weeks). Neuron 89, 248268 (2016). Nasser, J. et al. Aranda, S., Mas, G. & Di Croce, L. Regulation of gene transcription by Polycomb proteins. Identification of functional single nucleotide polymorphisms in the branchpoint site. Molecular genetics of human pigmentation diversity. Increasing role of maternal immune activation in neurodevelopmental disorders. Godfrey, K. M. et al. Front. Hi-C data) enables the identification of novel local and distal eQTL-gene connections. SNPs can be viewed as the SNPs that are correlated with mRNA expres-sion of a gene. The expression level in an indivisual is measured by the measuring the Trascribed mRNA, by the method of Northern blot . The .gov means its official. The significance of these associations in the developing cortex and how they contribute to the etiology of ASD remains to be empirically determined. Single nucleotide polymorphisms (SNPs) are one of the most common types of genetic variations in the human genome. Understanding the impact of SNPs associated with autism spectrum disorder on biological pathways in the human fetal and adult cortex, $$p\;value = \frac{\sum (bootstrapped \ge observed)}{n}$$, https://doi.org/10.1038/s41598-021-95447-z. Disclaimer. 45, 12381243 (2013). Tam, V. et al. PubMed Central The STRING33 PPI network (version 11.0, protein.links.full.v11.0.txt.gz, https://string-db.org/) was downloaded on 24/09/2020. In this study, we integrated four distinct levels of biological information (GWAS, eQTL, genome organization [Hi-C] and proteinprotein interactions [PPI] networks) to translate genetic variation associated with ASD to the biological pathways that are affectedthrough alterations to the transcription levels of their component proteins in fetal and adult cortical tissues. Here, we focused on roles for changes within cortical tissue. Unauthorized use of these marks is strictly prohibited. Genet. Thereby, SNPs contribute to disease susceptibility, various responses to medication treatment and differences in outcomes within a disease population [8, 9]. volume54,pages 748749 (2022)Cite this article. Corley, M. & Kroll, K. L. The roles and regulation of Polycomb complexes in neural development. Secondly, common SNPs only account for ~20% to the ASD risk6, suggesting that other genetic (e.g., rare variants, structural variation) and environmental factors also contribute to ASD etiology65,66. The size of each node depends on the protein expression levels (no missing values and minimum expression level >0 TPM) in the corresponding cortical tissue. Tolerance to loss-of-function (LoF) variants was measured using the probability-of-being-LoF-intolerant (pLI) method and gene LoF metrics were obtained from gnomAD (v2.1.1, https://gnomad.broadinstitute.org/)32. 4, Supplementary Table 9). 22, 345361 (2016). Moreover, this approach is not tissue or disease specific and is capable of identifying previously unknown tissue-specific contributions to ASD etiology and its interactions with multimorbid conditions. Interacting fragments that overlapped annotated genes (GENCODE transcript model version 26) were subsequently identified (hereafter referred to as SNP-gene pairs). SNP. Correspondence to 20, 467484 (2019). bioRxiv https://doi.org/10.1101/787903 (2019). MacRae, C. A. SNPs are located in different regions of genes such as promoters, exons, introns, and 5 and 3 untranslated regions (UTR) and may affect gene expression and regulation. 48, 12791283 (2016). Nat. RNA-seq data were processed by GTEx using RNA-seq analysis (https://github.com/broadinstitute/gtex-pipeline/tree/master/rnaseq) and eQTL discovery (https://github.com/broadinstitute/gtex-pipeline/tree/master/qtl) pipelines to calculate normalized gene expression and covariates. Gene expression is the outcome of numerous processes including transcription, co-transcriptional splicing, mRNA export, and translation. non-coding RNAs); (2) ASD is a spectrum disorder not a single highly characterised phenotype; and (3) like all polygenic disorders, ASD is likely to be a whole of body disorder with important etiological contributions from discrete and distant organs within the body. PDE10A, PBX1, SF3B1, BAG6 and RERE) were LoF intolerant (Supplementary Table 6). ZSCAN23 and LY6G5C) whose transcript levels increase or decrease, dependent upon specific eQTL. 3). Single nucleotide polymorphisms and cancer susceptibility We have shown that the transcript levels of genes, whose encoded proteins are known to contribute to immune pathways, fatty acid metabolism, ribosome biogenesis, aminoacyl-tRNA biosynthesis and spliceosome are affected in the fetal cortex. https://doi.org/10.1038/s41588-022-01093-0. A bioinformatics approach for the phenotype prediction of nonsynonymous single nucleotide polymorphisms in human cytochromes P450. CAS Chang, X. What are some common examples of known SNPs used in The patterns of transcript changes in the adult cortex PPI network were similar to those observed in the fetal cortex. Scientific Reports (Sci Rep) 45, 984994 (2013). 25, 142154 (2015). High-throughput identification of human SNPs affecting regulatory element activity. ASD-eQTLs within the fetal cortex PPI aminoacyl-tRNA biosynthesis cluster are associated with: (a) increases in transcript levels for five genes (i.e. You are using a browser version with limited support for CSS. Collectively, these observations are consistent with changes in the regulation of subsets of stable and remodelled spatial eQTLs, over the course of brain development, being associated with a predisposition to ASD. SNPs represent an important class of genetic variant, defined as a single-base change in the DNA sequence. HHS Vulnerability Disclosure, Help Article CAS In the meantime, to ensure continued support, we are displaying the site without styles Question: how could SNP's contribute to gene regulation? - Chegg Therefore, with appropriate pre-natal genetic diagnosis of risk and patient stratification, it remains possible that targeted lipid supplementation could reduce the risk of ASD. Careers. 4), contained genes (i.e. miRNA) or by spatial associations of the regulatory element and target gene. An alternative explanation is that the existence of the shared eQTLs between the multimorbid conditions is due to ambiguity in the phenotyping that was used in the GWAS studies that characterised the phenotype associated-SNPs. PubMed Epub 2009 Feb 9. A SNP is a one-letter place where your genome varies from another genome sequence. Recall that the DNA sequence is formed from a chain of . We identified 21 and 23 eQTLs that reduce the affinity of at least one TFBS in fetal and adult cortical tissues, respectively (Fig. Abnormalities in lipid metabolism may affect the proper functioning of the nervous system and, thus can contribute to ASD etiology48,49,50. Rev. Ohki-Hamazaki, H. Subchapter 22Bneuromedin B. Nat. contracts here, Sign up for Nature Briefing: Translational Research. By contrast, the adult PPI gene set contained three highly connected modules, two of which were not associated with specific pathway, and one of which was enriched for immune pathways. Modules that were enriched with ASD-eQTL associated genes were identified in the fetal and adult cortical tissues. Genom. TYW5, FTCDNL1, and RTN1) whose transcript levels decrease with the ASD-eQTL and NDRG4, whose transcript levels increase or decrease dependent upon the ASD-eQTL. J. Med. eQTL datasets for fetal and adult cortex were obtained from Walker et al.20 and GTEx v821, correspondingly. Genes were inverse normal transformed across samples. Han, V. X. et al. Physiol. Question : How could SNPs contribute to gene regulation? Formulate Explaining the disease phenotype of intergenic SNP through - PubMed & Crawford, D. A. Genet. MATH Identification of positional candidate genes for the skin fat phenotype in ducks. Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder. de la Torre-Ubieta, L., Won, H., Stein, J. L. & Geschwind, D. H. Advancing the understanding of autism disease mechanisms through genetics. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. J. Mol. For gene analysis, we resampled eGenes from the list of all genes in the genome (GENCODE transcript model version 26). Mountjoy, E. et al. the effects of rs7432375 and rs7618871 on PCCB gene transcript levels are not collinear; Supplementary Fig. The CoDeS3D algorithm then identified the restriction fragments containing the SNPs within fetal (i.e. For example, identical samples were not used in the ChromHMM, eQTL and Hi-C analyses of the fetal and adult cortical tissues. Sign up for the Nature Briefing newsletter what matters in science, free to your inbox daily. Removal of HLA genes from analyses of the adult cortex gene set identified a retained enrichment for immune-related processes (e.g. N. Engl. Cell 179, 750-771.e22 (2019). ASD-associated eQTLs regulate 81 genes in fetal and 44 genes in adult cortical tissues (Fig. (d) 15 and 18 ASD-associated eQTLs affect at least one transcription factor binding sites within the fetal and adult cortical tissues, respectively. Variants that do not have strand information for HumanOmni25-8v1-2_A1 and HumanOmni2-5Exome-8-v1-1-A genotyping chips were excluded (strand files and update_build.sh script were downloaded from https://www.well.ox.ac.uk/~wrayner/strand/, 01/07/2020, Supplementary Table 1). Genet. Accessibility In our study eQTL data represent composite datasets across critical periods of development (e.g. Mol. Quality control metrics and gene-level expression data were calculated using RNA-seQC (v2.3.6) on the basis of GENCODE v26 gene annotation (gencode.v26.GRCh38.genes.gtf, gs://gtex-resources). Eur. In particular, we found significant enrichment of eQTLs within regions repressed by Polycomb proteins in the fetal cortex compared to the adult cortex. Rev. In order to study spatial regulatory interactions in fetal and adult cortical tissues, we analysed two fetal brain-specific (i.e. You are using a browser version with limited support for CSS. In Handbook of Hormones (eds Takei, Y. et al.) Google Scholar. J. Abnorm. In conclusion, we have identified clinically relevant putative functional impacts for ASD-associated genetic variants within fetal and adult cortical tissues. Imputation accuracy was assessed by filtering variants by info score (INFO<0.8). supervised E.G. We observed that schizophrenia has the largest significant overlap with ASD-associated eQTLs both in fetal (78 out of 80, bootstrapping p<0.01, n=10,000) and adult (57 out of 58, bootstrapping p<0.01, n=10,000) cortical tissues (Supplementary Fig. Article We identified shared and development-specific changes to transcript levels for spatially regulated genes within immune pathways. Notably, eQTLs involving rs13218591 and rs2237234 regulate different butyrophilin alleles (i.e. MacArthur, J. et al. Cell. J. Immunol. Single nucleotide polymorphism (SNP) is the simplest form of DNA variation among individuals. Genotype data quality control was performed using PLINK (v2.0). Single nucleotide polymorphism, or SNP. Neurol. Cell Tissue Res. PubMed Central Durand, N. C. et al. PubMed 193-e22B-3 (Academic Press, 2016). What are single nucleotide polymorphisms (SNPs)? - MedlinePlus The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. 69, 101468 (2020). 3, 1 (2011). E.G. PMC Nature 538, 523527 (2016). PDF GENETIC ASSOCIATION STUDIES OF COMPLEX DISEASES ByYen - arXiv Single nucleotide polymorphisms and cancer susceptibility Nucleic Acids Res. Genet. For example, PRC1.5 is recruited to activate genes47 and in combination with AUTS2 (autism susceptibility candidate 2) activates gene expression in neurons47. Patches of disorganization in the neocortex of children with autism. We also found that immune pathways were affected both in fetal and adult cortical tissues. How could so-called altruistic behaviors arise through natural selection? Dev. associated with an increase or reduction in transcript levels; Supplementary Fig. The transcript levels of the genes within the two unknown adult cortex PPI clusters increased (i.e. Again transcript levels for 12 genes are reduced. The PPI clusters with unknown functions (Fig. Neurosci. We identified 42 PPIs in the fetal and 10 PPIs in the adult cortical tissues. Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. We identified ASD-associated eQTLs that mark putative regulatory regions in fetal (n=80) and/or adult (n=80) cortical tissues. ASD is widely considered to be a neurodevelopmental disorder resulting from functional changes within the brain. This data-driven approach enables the discovery of SNPs whose alleles impact gene regulation by miRNAs, with functional consequences for tumor biology. 20, 327348 (2010). Vannucchi, G., Perugi, G. & Masi, G. Bipolar disorder and ASD. GWAS studies have identified genetic variants associated with ASD, but the functional impacts of these variants remain unknown. PubMed Cells 8, 1151 (2019). regioneR: An R/Bioconductor package for the association analysis of genomic regions based on permutation tests. Basically, SNPs are copying errors. ASD-associated eQTLs mark loci that spatially regulate the expression of genes involved in the fetal brain, in the adult brain, or both. Circ. Most genetic risk for autism resides with common variation. Finally, protein identifiers (STRING)33 and transcript identifiers (GTEx and Walker et al. It was expected that we would not identify eQTLs for all 344 of the tested ASD-associated SNPs. Autism 3, 9 (2012). CAS Psychiatry 8, 233 (2018). Clipboard, Search History, and several other advanced features are temporarily unavailable. This is a preview of subscription content, access via your institution, Receive 12 print issues and online access, Get just this article for as long as you need it, Prices may be subject to local taxes which are calculated during checkout. BCFtools were used to set variant IDs according to the GTEx variant ID format (e.g. Thus, integrating biological measurements on developmental and tissue-specific spatial chromatin interactions with eQTL information could inform our understanding of the regulatory impacts of ASD-associated SNPs. Chromosome conformation elucidates regulatory relationships in developing human brain. Google Scholar. RNA-seq data)20,21 were mapped to gene identifiers, thus there was a potential loss of data specificity, since genes typically produce multiple transcripts and protein variants due to alternative splicing. Mol. Genes that have been curated as being involved in ASD (AutDB31; http://autism.mindspec.org/autdb/Welcome.do, assessed on 16/11/2020). HCG27, TAP2, HLA-F, HLA-DMA and HLA-DMB) are not highly expressed (TPM<3) within fetal cortical tissue. Genet. Writing Committee for the Attention-Deficit/Hyperactivity Disorder et al. By contrast, the majority of ASD-associated eQTLs, that were identified in the adult cortex, are located within quiescent/low transcribed and weak transcription regions. 3). Tidsskr Nor Laegeforen. There is no fundamental reason why the same regulatory elements must or must not impact on the same gene in different tissues, or at different stages of development. We have delimitated the minimal promoter to a region of less than 150 bp, with 63% of identity among 5 different species. PPI network analyses have been used to discover essential proteins, clusters of proteins with similar, overlapping or combinatorial functions, and associated pathways involved in tissue-specific contributions to ASD etiology17,18. Buniello, A. et al. Using proteinprotein interaction (PPI) networks to explore interactions between proteins encoded by known disease-associated genes is a powerful approach to study the etiology of complex diseases, including psychiatric disorders17,18. PubMedGoogle Scholar. PubMed Central These findings indicate that there may be developmental stage-specific differences in the impact of the immune system on ASD risk and on-going severity. Pepper, K. L. et al. Nucleic Acids Res. A Manhattan plot of association results from genome-wide association analysis.Y axis shows log 10 (P-value) of the association result for each SNP.Each SNP is indicated by a colored dot. However, gene expression-based methods use an arbitrary definition of which genes contribute to the SNP enrichment score at each locus and either select a single gene with the highest cell type specific gene expression or include all the genes within the locus (Hu et al., 2011). Finally, our approach focuses on identifying changes in gene regulation that are associated with and may contribute to ASD. & Chen, Y.-T. https://doi.org/10.1038/s41588-022-01087-y, Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity. Fetal and adult cortical tissue-specific PPI networks with immune and growth related phenotypes are affected by ASD-associated eQTLs. Behav. M.V. 45, D896D901 (2017). The author declares no competing interests. J. Psychiatry 175, 359369 (2018). For example, rs4647903, rs2535629, rs221902, rs7743252, rs832190 eQTLs were associated with increased transcript levels of DDHD2, ITIH4, PCNX1, TAP2, THOC7 genes both in fetal and adult cortical tissues. 46, 881885 (2014). Gandal, M. J. et al. Roles for immune dysfunction in ASD etiology are increasingly being identified57,58,59. Google Scholar. When SNPs occur within a gene or in a regulatory region near a gene, they may play a more direct role in disease by affecting the gene's function. These mechanisms depend on the role o Pedapati, E. V. et al. ASD-eQTLs were also associated with increases in HCG27 (TPM=3) and NDUFA6 (TPM=116.31) transcript levels within fetal cortex. Nucleic Acids Res. Front. SF3B1 and THOC7 were also associated with ASD-eQTLs within the adult cortex. For example, if the user wants to find SNPs that might affect gene expression, he/she may choose to sort SNPs by regulatory potential score before sorting SNPs by function score. The resulting expression (GTEx_Analysis_v8_eQTL_expression_matrices.tar) and covariates (GTEx_Analysis_v8_eQTL_covariates.tar.gz) data were downloaded from GTEx website (https://www.gtexportal.org/home/datasets, 01/05/2020). HLA-DRB1, HLA-DMB and HLA-DMA; associated with exogenous peptide processing) genes. SNPs can also be used to track the inheritance of disease genes within families. Science 366, 11341139 (2019). 235, 40314045 (2020). Phenotypes were defined as the mapped traits associated with the SNP in the GWAS Catalog. As such, the three-dimensional (3D) genome organization, which emerges from the sum of the biophysical interactions within the nucleus, includes tissue-specific spatial interactions between eQTL regions and the genes that they control (hereafter eGenes)12. 48, 552555 (2016). Each bootstrap iteration generated samples of the same size as in the tested sample for tested condition. CAS Gazal, S. et al. For example, rs4481150 eQTL is present in both fetal and adult eQTL databases. eCollection 2022. It is estimated that the human genome contains more than 10 million different SNPs. J. chr1_61170_C_T_b38 where chr1 is chromosome name, 61170 is variant position on the chromosome, C is reference allele, T is alternate allele and b38 is genome build 38). Louvain clustering identified seven PPI modules within the fetal cortex that were enriched for immune pathways, fatty acid metabolism, aminoacyl-tRNA biosynthesis, spliceosome, ribosome biogenesis in eukaryotes and two unknown modules. 12, 24782492 (2017). and commented on the manuscript. Hughes, H. K., Mills Ko, E., Rose, D. & Ashwood, P. immune dysfunction and autoimmunity as pathological mechanisms in autism spectrum disorders. The authors declare no competing interests. Neurosci. Brodie, A., Azaria, J. R. & Ofran, Y. Virtual histology of cortical thickness and shared neurobiology in 6 psychiatric disorders. Finucane, H. K. et al. How far from the SNP may the causative genes be?. Grove, J. et al. In this manuscript we integrated data on cortex-specific spatial chromatin interactions (i.e. 53, 15271533 (2021). Transl. Louis S, Busch RM, Lal D, Hockings J, Hogue O, Morita-Sherman M, Vegh D, Najm I, Ghosh C, Bazeley P, Eng C, Jehi L, Rotroff DM. 12, 405 (2018). Bookshelf Disord. Removal of all HLA genes from the analysis, identified enrichments for genes involved in fatty acid metabolism and processes related to the endoplasmic-reticulum-associated protein degradation (ERAD) pathway within fetal cortex. Finally a number of fetal (n=50) and adult (n=28) cortex-specific eQTLs were observed (Supplementary Table 3). Autism Spectr. Single-Nucleotide Polymorphism - an overview | ScienceDirect Topics SNPselector: a web tool for selecting SNPs for genetic association The identified gene sets were enriched for immune pathways, fatty acid metabolism, ribosome biogenesis, aminoacyl-tRNA biosynthesis and the spliceosome in the fetal cortex. This method prioritizes genes for functional characterization and helps address questions about the architecture of human phenotypes. Gene Ontology (GO) enrichment and pathways analyses for the eGenes within the ASD-specific CSPPI clusters were performed using the g:GOSt module of the g:Profiler tool81. Trlungeanu, D. C. et al. ISSN 2045-2322 (online). 2023 Apr 6;14(4):244. doi: 10.1038/s41419-023-05763-7.

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