"A second generation human haplotype map of over 3.1 million
SNPs," by the International HapMap Consortium (K.A. Frazer, et
al.), Nature, 449(7164): 854-61, 18 October 2007.
Abstract: "We describe the Phase II HapMap, which
characterizes over 3.1 million human single nucleotide polymorphisms (SNPs)
genotyped in 270 individuals from four geographically diverse populations
and includes 25-35% of common SNP variation in the populations surveyed.
The map is estimated to capture untyped common variation with an average
maximum r(2) of between 0.9 and 0.96 depending on population. We
demonstrate that the current generation of commercial genome-wide
genotyping products captures common Phase II SNPs with an average maximum
r(2) of up to 0.8 in African and up to 0.95 in non-African populations, and
that potential gains in power in association studies can be obtained
through imputation. These data also reveal novel aspects of the structure
of linkage disequilibrium. We show that 10-30% of pairs of individuals
within a population share at least one region of extended genetic identity
arising from recent ancestry and that up to 1% of all common variants are
untaggable, primarily because they lie within recombination hotspots. We
show that recombination rates vary systematically around genes and between
genes of different function. Finally, we demonstrate increased
differentiation at non-synonymous, compared to synonymous, SNPs, resulting
from systematic differences in the strength or efficacy of natural
selection between populations."
This 2007 report from Nature was cited 73
times in current journal articles indexed by Clarivate
during July-August 2009. As was the case after the previous two-month tally
for May-June 2009, this is currently the second-most-cited biology paper
published in the last two years, aside from reviews. Prior to the most
recent bimonthly count, citations to the paper have accrued as follows:
Related
information: What's Hot in Biology: "HapMap, The Next Generation: More
SNPs, More Insights," by Jeremy Cherfas
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