High throughput detection of small genomic insertions or deletions by Pyrosequencing.

作者: Dong-chuan Guo , Yuhua Qi , Rumin He , Prateek Gupta , Dianna M Milewicz

DOI: 10.1023/A:1026090218031

关键词:

摘要: Small insertions or deletions of nucleotides are common polymorphic variations in the human genome and can result a predisposition to disease. However, high throughput methods for detecting these limited. This report describes method detect this variation based on sequencing boundaries nucleotide alterations using Pyrosequencing technique. optimally up 100 base pair deletions, also complicated genomic rearrangements.

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