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Activity Number:
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416
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Type:
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Contributed
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Date/Time:
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Wednesday, August 1, 2007 : 10:30 AM to 12:20 PM
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Sponsor:
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Biometrics Section
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| Abstract - #310118 |
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Title:
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Mutation Detection in Exon Grouping Analysis
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Author(s):
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Yuan Yuan*+ and Xin Lu and Jun S. Liu and James D. Iglehart and Alexander Miron
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Companies:
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Harvard University and University of California, San Diego and Harvard University and Dana-Farber Cancer Institute and Dana-Farber Cancer Institute
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Address:
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1 Oxford St, Cambridge, MA, 02138,
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Keywords:
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DNA mutation ; Exon Grouping Analysis ; outlier detection
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Abstract:
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The analysis of DNA for mutations based on resulting structural aberrations has been performed in various forms for decades. DNA can be analyzed after it has been denatured to a single strand form by a procedure called Single-Strand Conformational Analysis (SSCA). DNA that contains a mutation folds in a conformation that differs from that of wild type DNA. These fragments can be analyzed on a polyacrylamide gel and mutations can be identified due to their aberrant mobility. We have developed a process that is high throughput, very sensitive as compared to standard Sanger sequencing (98% sensitivity in a blinded validation study) and inexpensive. A non-parametric approach combining nearest-neighbor and quantile statistic is applied to select outlier DNA fragments which may contain mutation. The result may also be applied to discover Single Nucleotide Polymorphisms (SNPs).
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