Resources for Comparative Mendelian Disease Genomics

High-throughput DNA sequence analysis and mutation detection technologies are key processes for understanding genetic illnesses and diagnosing them in the clinic. However, in a significant percentage of cases sequencing attempts fail to deliver a plausible disease gene. This research study is designed to refine mutation detection approaches in mice where mutation discovery efforts are supported by allied approaches that cannot reasonably be used for human studies. Once refined, the improved approaches can once again be applied clinically, translating into improved public health by providing a better understanding of human genetic illness and more efficient and accurate diagnosis for patients and families.