REU 2013 – Analyzing Exome Sequencing Data to Detect Familial ALS Genes


Familial ALS (Amyotrophic Lateral Sclerosis) is an inheritable neurodegenerative disease affecting nerve cells in the brain and spinal cord. Our project is on statistical methodology development and data analysis for the most cutting-edge genetic data from exome sequencing and genome-wide association studies of familial ALS. After exploring over fifteen methods for analyzing this type of data, we have determined four methods, which we believe to be the most efficacious: C-alpha, Replication Based Testing, Joint-Rank Method, and Variable Threshold Method. We also aim to develop new methods based on Rank Truncated Product test. Combining biological prior information, we are now applying these methods to our data, and we hope to find new evidence of familial ALS gene associations.