Core B: Human Genetics and Genomics Core

Project Summary/Abstract The rapid growth in next generation sequencing techniques and proteomics has revolutionized the study of human disease, paving the way for the advent of personalized medicine and advancing the study of rare genetic syndromes. While this has brought new opportunities to examine samples from human subjects with

an unprecedented degree of granularity, as a result, we are faced with larger and increasingly complex data sets of genetic and molecular signatures that require specialized expertise for analysis and interpretation. Such approaches are ideal for the study of samples from human subjects with genetic mutations or syndromes

where cellular or genetic changes may be difficult to detect. Barriers to successful and more efficient studies in the area of rare genetic disorders include access to such rare samples as well as the analytical and computational expertise required for advanced genomic and proteomic techniques. The Human Genetics and

Genomics Core will reduce these barriers by optimizing collection, access and sharing of rare samples as well as supporting the analysis, implementation and data management attendant to these techniques. By reducing barriers in our shared approaches to the study of rare STAT3 mutations, we envision that this will allow more

efficient coordination of our collaborative efforts across the P01 projects as well as allowing more timely and rapid analysis of such rare human samples.