Segmental duplications mediate novel, clinically relevant chromosome rearrangements
نویسندگان
چکیده
منابع مشابه
Segmental duplications mediate novel, clinically relevant chromosome rearrangements.
Copy number studies have led to an explosion in the discovery of new segmental duplication-mediated deletions and duplications. We have analyzed copy number changes in 2419 patients referred for clinical array comparative genomic hybridization studies. Twenty-three percent of the abnormal copy number changes we found are immediately flanked by segmental duplications > or =10 kb in size and > or...
متن کاملComparing genomes with rearrangements and segmental duplications
MOTIVATION Large-scale evolutionary events such as genomic rearrange.ments and segmental duplications form an important part of the evolution of genomes and are widely studied from both biological and computational perspectives. A basic computational problem is to infer these events in the evolutionary history for given modern genomes, a task for which many algorithms have been proposed under v...
متن کاملSegmental duplications flank the multiple sclerosis locus on chromosome 17q.
Large chromosomal rearrangements, duplications, and inversions are relatively common in mammalian genomes. Here we report interesting features of DNA strands flanking a Multiple Sclerosis (MS) susceptibility locus on Chromosome 17q24. During the positional cloning process of this 3-Mb locus, several markers showed a radiation hybrid clone retention rate above the average (1.8-fold), suggestive ...
متن کاملBAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications.
Chromosome 15q11-q13 is one of the most variable regions of the human genome, with numerous clinical rearrangements involving a dosage imbalance. Multiple clusters of segmental duplications are found in the pericentromeric region of 15q and at the breakpoints of proximal 15q rearrangements. Using sequence maps and previous global analyses of segmental duplications in the human genome, a targete...
متن کاملTopological Visualization Uncovers Novel Clinically Relevant Clusters
The objective of this project is to demonstrate how a topological exploration of three distinct clinical databases revealed or confirmed novel subgroups with associated features that may inform medical decision-making. Exploratory topological visualization using Iris is a valuable adjunct to traditional methods of statistical evaluation. Correlating identified clusters with clinical knowledge m...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2009
ISSN: 1460-2083,0964-6906
DOI: 10.1093/hmg/ddp233