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RIC: Research Interest Comparator |
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Professor
Affiliation: UTSW
Office: not provided
Phone #: not provided
Fax: not provided
Email: garner@swmed.edu
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Lab: not provided
Genetic diseases arise when genetic variation has functional consequences in individuals carrying a given variant or set of variants. Genetic research has been remarkably successful in the past 20 years in identifying over 40,000 mutations associated with human diseases. The majority of these mutations are single nucleotide polymorphisms (SNPs); small insertions and deletions are also highly represented. In contrast, only seventy-one of the reported disease-associated mutations are repeat variations, a number that seems anomalously low given the prevalence of such variations in human genes. To this point, we recently found more than 120,000 STRs predicted to be polymorphic in human genes.
Short tandem repeats (also referred to as “microsatellites”) are generally defined as genomic sequences of one to six nucleotides repeated two or more times with no intervening sequence; for example, CTGCTGCTGCTG is a short tandem CTG repeat of period three (the length of the repeating unit) and exponent four (the number of times the unit is repeated). Work in our lab (and elsewhere) has shown that short tandem repeats (STRs) are common in mammals and are often polymorphic, due primarily to their tendency to expand or contract during DNA replication and, to a lesser extent, during homologous recombination. The expansion/contraction mutation rate of STRs is estimated at 10-4 to 10-2 per locus per generation, several orders of magnitude higher than that of the SNP point mutation rate. Our results indicate that 66% of human genes have at least one likely polymorphic STR.
Extraction Method: Keyword Count with Lexical Variants Added-
Eliminated words list: MedlinePlus List
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Similarity Method: Weighted Keyword Count
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Weighting Method: Term Frequency * Inverse Document Frequency
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Database: Medline Updates from current year
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Publication Type: All
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Score Calculation Method: Cosine Similarity Method
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Sort by: Score
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Results computed on: 6/9/2006