tailieunhanh - báo cáo khoa học: " Inversion variants in the human genome: role in disease and genome architecture"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Inversion variants in the human genome: role in disease and genome architecture | Feuk Genome Medicine 2010 2 11 http content 2 2 11 Genome Medicine REVIEW L_ Inversion variants in the human genome role in disease and genome architecture Lars Feuk Abstract Significant advances have been made over the past 5 years in mapping and characterizing structural variation in the human genome. Despite this progress our understanding of inversion variants is still very restricted. While unbalanced variants such as copy number variations can be mapped using array-based approaches strategies for characterization of inversion variants have been limited and underdeveloped. Traditional cytogenetic approaches have long been able to identify microscopic inversion events but discovery of submicroscopic events has remained elusive and largely ignored. With the advent of paired-end sequencing approaches it is now possible to map inversions across the human genome. Based on the paired-end sequencing studies published to date it is now feasible to make a first map of inversions across the human genome and to use this map to explore the characteristics and distribution of this form of variation. The current map of inversions indicates that many remain to be identified especially in the smaller size ranges. This review provides an overview of the current knowledge about human inversions and their contribution to human phenotypes. Further characterization of inversions should be considered as an important step towards a deeper understanding of human variation and genome dynamics. Inversions Over the past 5 years there has been a major drive in genomic research to identify submicroscopic structural variation in the human genome ranging from a few hundred base pairs to approximately five megabases Mb in size. Structural variation is a term describing all forms of rearrangements including deletions duplications Correspondence Address Department of Genetics and Pathology Rudbeck Laboratory Uppsala University 751 85 Uppsala .