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• W4387476799 abstract "Genome-wide association studies (GWAS) identify associated variants but do not tell the whole story. The causal SNPs and genes within most genome-wide significant loci remain unknown, due to linkage disequilibrium (LD) within these regions. Fine-mapping is a rapid, scalable, and cost-effective approach to computationally prioritize likely causal genes and single nucleotide polymorphisms (SNPs) for functional laboratory experiments. Specifically, fine-mapping methods can predict casual variants in putative regulatory elements that may modulate transcriptional activity of key genes contributing to one or many endophenotypes. Recently, these methods have expanded to predict tissue, cell-type, and context-specific activity of risk variants. Bridging the gap between variant and function is a key challenge, and this symposium will showcase innovations and insights from three different perspectives: (i) implementation of statistical and functional fine-mapping and conditional analysis to unravel the genetic etiology of complex disorders such as schizophrenia (SCZ) and bipolar disorder (BD), (ii) a new and powerful method for fine-mapping of multi-ancestry GWAS and (iii) functional validation of fine-mapping results using high-throughput sequencing and screening techniques. Georgia Panagiotaropoulou, MSc will present a comprehensive analysis of genetic variation in the major histocompatibility complex (MHC) locus in European (EUR) and East-Asian (EAS) SCZ cohorts, leading to the prioritization of likely causal SCZ variants. Maria Koromina, PhD will present fine-mapping of GWAS BD risk loci, using a statistical and functional fine-mapping pipeline which integrates a suite of methods. Results of computational validation analyses will be discussed, such as examination of overlap with functional genomic features from BD-relevant tissues and cell-types, and development of fine-mapping-informed polygenic risk scores. Kai Yuan, PhD will present an unpublished and novel method named SuSiEx for multi-ancestry fine-mapping, which leverages the LD structure across ancestries to improve fine-mapping resolution. Finally, Kayla Townsley, BSc will present the application of high-throughput assays, such as massively parallel reporter assays (MPRAs) and single-cell CRISPR screens in hiPSC-models of neurodevelopment to validate predicted causal alleles. These methods can validate prediction models at a meaningful scale and link them to transcriptomic, epigenomic, and phenotypic effects in a context and cell-type specific manner. Discussant Prof. Howard Edenberg, PhD will summarize the state of the field of fine-mapping and functional in vitro validation methods and provide perspectives on future research and the crucial next steps to translate results to clinical prediction, treatment, and prevention." @default.
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• W4387476799 date "2023-10-01" @default.
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• W4387476799 title "VARIANT TO FUNCTION: INNOVATION AND INSIGHTS FROM FINE-MAPPING AND HIGH-THROUGHPUT ASSAYS" @default.
• W4387476799 doi "https://doi.org/10.1016/j.euroneuro.2023.08.018" @default.
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