Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 3 of 3 for “"sQTL"”.
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Germline variants associated with alternative splicing in colonic mucosa
… changes in the splicing patterns of genes (sQTLs). All individuals were genotyped from blood samples via SNP-chips, and imputation increased the number of testable variants to 4 million. Transcript expression was quantified with the alignment-free Salmon algorithm. Two separate approaches …
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Genetic architecture of transcript splicing in blood and phenotypic consequences
… generation of splicing quantitative trait loci (sQTLs) in a healthy cohort of blood donors from the INTERVAL study. Transcript splicing is quantified through the use of split-reads present in RNA-seq data using the LeafCutter pipeline, allowing the quantification of transcript splicing without …
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Explorando los canales de potasio KCNQ : una perspectiva en trastornos del neurodesarrollo y cardíacos
… cardiacas como el Síndrome de QT Largo (SQTL). El capítulo 1 de esta tesis se centró en la generación de un modelo murino de autismo, inducido por la exposición prenatal al ácido valproico, a fin de evaluar alteraciones epigenéticas y conductuales detrás de este trastorno. Si bien no se …