Abstract #302041

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JSM 2002 Abstract #302041
Activity Number: 234
Type: Invited
Date/Time: Tuesday, August 13, 2002 : 2:00 PM to 3:50 PM
Sponsor: IMS
Abstract - #302041
Title: Detection of Polymorphism Patterns in the Human Genome
Author(s): Aravinda Chakravarti*+
Affiliation(s): Johns Hopkins University
Address: 600 N. Wolfe Street, Jefferson St Building 2-109, Baltimore, Maryland, 21287, USA
Keywords:
Abstract:

All human genomes show variation in nucleotide sequence which occurs at a rate of ~ 1/1250 nucleotides. There is great variation in this rate as a function of the type of variation, genomic location and function. This pattern of polymorphisms is proving useful in deciphering the history of humans. In turn, these patterns, when studied in cases and controls for a trait (disease), can also lead to recognition of variation relevant to human disease. The statistical problems and current solutions will be discussed based on recent data from this laboratory and others.

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Revised March 2002