What Have Studies of Genomic Disorders Taught Us About Our Genome

摘要: The elucidation of genomic disorders began with molecular technologies that enabled detection changes which were (a) smaller than those resolved by traditional cytogenetics (less 5 Mb) and (b) larger what could be determined conventional gel electrophoresis. Methods such as pulsed field electrophoresis (PFGE) fluorescent in situ hybridization (FISH) resolve but limited to locus-specific studies. study has rapidly advanced the development array-based techniques. These examination entire human genome at a higher level resolution, thus allowing basis many new disorders, mechanisms result can copy number variation (CNV), most importantly, deeper understanding characteristics, features, plasticity our genome. In this chapter, we focus on structural architectural features genome, potentially instability, delineate how mechanisms, NAHR, NHEJ, FoSTeS/MMBIR lead disease-causing rearrangements, briefly describe relationship between leading methods presently used studying disorders. We end discussion about including: contribution mutation CNV disease, abundance mosaicism, extent subtelomeric frequency de novo rearrangements associated sporadic birth defects, occurrence balanced unbalanced translocations, increasing discovery insertional exploration complex exonic CNVs. postgenomic era, very technical resolution become higher. This leads greater effects present both healthy subjects individuals clinically relevant phenotypes.