RT Journal
A1 Innan, Hideki
A1 Padhukasahasram, Badri
A1 Nordborg, Magnus
T1 The Pattern of Polymorphism on Human Chromosome 21
JF Genome Research 
JO Genome Research 
YR 2003 
FD June 01 
VO 13 
IS 6a 
SP 1158 
OP 1168 
DO 10.1101/gr.466303 
UL http://genome.cshlp.org/content/13/6a/1158.abstract 
AB 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.