Genetic Regulation of Splicing differences between human populations
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Tutor / directorGraffelman, Jan; Mele, Marta; Garcia, Raquel
Document typeMaster thesis
Rights accessRestricted access - author's decision
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Alternative splicing (AS) is a fundamental step in mRNA biogenesis. Here, we present and adaptation of an existing state-of-the-art method for the the discovery of genetic variants that affect AS, referred to as splicing quantitative trait loci (sQTLs). We analyze 35 tissues form the GTEx dataset v8, generating a comprehensive catalog of sQTLs in hu- man protein coding genes. We study sQTLs that modulate the AS of the different transcript isoforms of protein coding genes, with special focus on ribosomal proteins (RP) genes, which could be mediating splicing differences between European-American and African-American human populations. Here, we identify new sQTLs in RP genes across tissues, and unrevealed sQTLs in previously reported RP sGenes. We found that RP sQTLs appear to be more shared between tissues than the general catalog of sQTLs of protein coding genes.
DegreeMÀSTER UNIVERSITARI EN INNOVACIÓ I RECERCA EN INFORMÀTICA (Pla 2012)