title: High throughput detection of small genomic insertions or deletions by Pyrosequencing.
abstract: Small insertions or deletions of nucleotides are common polymorphic variations in the human genome and can result in a predisposition to disease. However, high throughput methods for detecting these variations are limited. This report describes a method to detect this variation based on sequencing the boundaries of nucleotide alterations using the Pyrosequencing technique. This method can optimally detect up to 100 base pair nucleotide insertions and deletions, and also complicated genomic rearrangements.
authors: Department of Internal Medicine, University of Texas-Houston Medical School, MSB 1.410, 6431 Fannin, Houston, TX 77030, USA. Dongchuan.Guo@uth.tmc.edu
authors: Dong-chuan
authors: DC
authors: Guo
authors: Yuhua
authors: Y
authors: Qi
authors: Rumin
authors: R
authors: He
authors: Prateek
authors: P
authors: Gupta
authors: Dianna M
authors: DM
authors: Milewicz
mesh_terms: D000465:Algorithms; D020137:Base Pair Mismatch / Q000235:genetics*; D001483:Base Sequence; D011508:Chondroitin Sulfate Proteoglycans / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods*; D000071837:Fibrillins; D017353:Gene Deletion; D020869:Gene Expression Profiling / Q000379:methods*; D005787:Gene Frequency / Q000235:genetics; D005820:Genetic Testing; D016678:Genome; D037181:Lectins, C-Type; D008840:Microfilament Proteins / Q000235:genetics; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000379:methods*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D017422:Sequence Analysis, DNA / Q000379:methods*; D012984:Software; D053675:Versicans
chemical_list: D011508:Chondroitin Sulfate Proteoglycans; D000071837:Fibrillins; D037181:Lectins, C-Type; D008840:Microfilament Proteins; C508322:VCAN protein, human; D053675:Versicans