Absil, Pierre-AntoineVikkula, MiikkaBoutry, SimonSimonBoutry2025-02-042025-02-042017https://dial-mem.test.bib.ucl.ac.be/handle/123456789/32478The purpose of this master's thesis is the implementation of a new statistical framework based on the SKAT package, developed at Harvard, supporting the main class of association tests that have been developed nowadays (Burden, SKAT and SKATO). The framework has been developed in order to be used within Highlander, a software developed at GEHU lab that centralizes all their variant data and annotations from NGS (Next Generation Sequencing, mainly Whole Exome Sequencing). The purpose of this framework will be to fasten and guide the investigator through the identification of genetic regions (e.g. genes) which are most likely to be involved in rare diseasesBurden testsKernel association testsRare variantsScore testsAssociation testsGene prioritizationCommon disease/rare variant hypothesisCollection of rare variantsHighlanderNext-generation sequencingStatistical frameworkCollapsing methodsSKAT packageSKATOtext::thesis::master thesisthesis:12943