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 exploit these high-resolution measurements, instead aggregating the data at coarser resolutions, such a

SUBMITTER: Shim H 

PROVIDER: S-EPMC5795621 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature