C
Cheryl Guiver
Researcher at Wellcome Trust Centre for Human Genetics
Publications - 1
Citations - 600
Cheryl Guiver is an academic researcher from Wellcome Trust Centre for Human Genetics. The author has contributed to research in topics: Comparative genomic hybridization & Genome. The author has an hindex of 1, co-authored 1 publications receiving 585 citations.
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Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
Andrew J. Sharp,Sierra Hansen,Rebecca R. Selzer,Ze Cheng,Regina Regan,Jane A. Hurst,Helen Stewart,Sue Price,Edward Blair,Raoul C.M. Hennekam,Raoul C.M. Hennekam,Carrie Fitzpatrick,Rick Segraves,Todd Richmond,Cheryl Guiver,Donna G. Albertson,Daniel Pinkel,Peggy S. Eis,Stuart Schwartz,Samantha J. L. Knight,Evan E. Eichler +20 more
TL;DR: Using oligonucleotide arrays, the breakpoints of this microdeletion were refined, defining a 478-kb critical region containing six genes that were deleted in all four individuals, and it was found that these breakpoint regions are sites of copy number polymorphism in controls, indicating that these may be inherently unstable genomic regions.