Journal article
Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots
MS Phillips, R Lawrence, R Sachidanandam, AP Morris, DJ Balding, MA Donaldson, JF Studebaker, WM Ankener, SV Alfisi, ES Kuo, AL Camisa, V Pazorov, KE Scott, BJ Carey, J Faith, G Katari, HA Bhatti, JM Cyr, V Derohannessian, C Elosua Show all
Nature Genetics | Published : 2003
DOI: 10.1038/ng1100
Abstract
Recent studies of human populations suggest that the genome consists of chromosome segments that are ancestrally conserved ('haplotype blocks'; refs. 1-3) and have discrete boundaries defined by recombination hot spots4,5. Using publicly available genetic markers6, we have constructed a first-generation haplotype map of chromosome 19. As expected for this marker density7, approximately one-third of the chromosome is encompassed within haplotype blocks. Evolutionary modeling of the data indicates that recombination hot spots are not required to explain most of the observed blocks, providing that marker ascertainment and the observed marker spacing are considered. In contrast, several long blo..
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