Wavelet-based genetic association analysis of functional phenotypes arising from high-throughput sequencing assays

Abstract

Understanding how genetic variants influence cellular-level processes is an important step toward understanding how they influence important organismal-level traits, or “phenotypes,” including human disease susceptibility. To this end, scientists are undertaking large-scale genetic association studies that aim to identify genetic variants associated with molecular and cellular phenotypes, such as gene expression, transcription factor binding, or chromatin accessibility. These studies use high-throughput sequencing assays (e.g., RNA-seq, ChIP-seq, DNase-seq) to obtain high-resolution data on how the traits vary along the genome in each sample. However, typical association analyses fail to exp..