TY  - JOUR
A1  - Innan, Hideki
A1  - Padhukasahasram, Badri
A1  - Nordborg, Magnus
T1  - The Pattern of Polymorphism on Human Chromosome 21
Y1  - 2003/06/01 
JF  - Genome Research 
JO  - Genome Research 
SP  - 1158 
EP  - 1168 
DO  - 10.1101/gr.466303 
VL  - 13 
IS  - 6a 
UR  - http://genome.cshlp.org/content/13/6a/1158.abstract 
N2  - Polymorphism data from 20 partially resequenced copies of human chromosome  21—more than 20,000 polymorphic sites—were analyzed. The  allele-frequency distribution shows no deviation from the simplest population  genetic model with a constant population size (although we show that our  analysis has no power to detect population growth). The average rate of  recombination per site is estimated to be roughly one-half of the rate of  mutation per site, again in agreement with simple model predictions. However,  sliding-window analyses of the amount of polymorphism and the extent of  linkage disequilibrium (LD) show significant deviations from standard models.  This could be due to the history of selection or demographic change, but it is  impossible to draw strong conclusions without much better knowledge of  variation in the relationship between genetic and physical distance along the  chromosome. 
ER  -