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brief communications 372 nature genetics volume 27 april 2001

Summary: brief communications
372 nature genetics volume 27 april 2001
false-positive SNPs in duplicated regions
show the tell-tale sign of having 50%
allele frequencies for both alleles in all
populations. The only way to test for
false-positive SNPs due to duplications is
to check for mendelian inheritance of the
alleles or assay the candidate SNP against
a duplicated haploid genome such as the
complete hydatidiform mole5. Based on
the general experience that only approxi-
mately 5% of candidate SNPs that passed
the computer filters for repetitive ele-
ments are due to low-copy duplications,
global testing of candidate SNPs for
duplications is not warranted.
Because a significant fraction of the
SNPs in the public domain are found in
repetitive regions, there is no guarantee


Source: Abecasis, Goncalo - Department of Biostatistics, University of Michigan


Collections: Biology and Medicine; Mathematics