Predicted Molecular Effects of Sequence Variants Link to System Level of Disease

摘要: Developments in experimental and computational biology are advancing our understanding of how protein sequence variation impacts molecular function. However, the leap from micro level function to macro whole organism, e.g. disease, remains barred. Here, we present new results emphasizing earlier work that suggested some links disease. We focused on non-synonymous single nucleotide variants, also referred as amino acid variants (SAVs). Building upon OMIA (Online Mendelian Inheritance Animals), introduced a curated set 117 disease-causing SAVs animals. Methods optimized capture effects often correctly predict human (OMIM) animal (OMIA) variants. predicted mouse model, i.e. put OMIM into orthologs. Overall, fewer were with effect model organism than original organism. Our results, along other recent studies, demonstrate predictions important aspects Thus, silico methods focusing can help understand system