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David Andrew Eccles edited Genotyping and Filtering.tex
over 8 years ago
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generated SNP set, and not used for any part of the SNP discovery
procedures.
An alternative approach to genotyping a group of individuals from a
target group is to use large public (and free) datasets from the
closest matching groups to generate the initial set. This approach
would be used if large-scale genotyping from the target group were
unavailable, or would be prohibitively expensive.
While genotyping similar groups is much cheaper, it also has a high
chance of misses for relevant markers, as the marker mutation profile
of populations can differ quite significantly between populations. As
a demonstration of this, allele frequency differences between HapMap
CEU and HapMap CHB populations were calculated for SNPs in a 10Mb
region centred on the ADH region. In this case, the HapMap CHB
population was used as a proxy for the Maori population. A total of 37
SNPs were selected, all with allele frequency differences greater than
0.5, for then genotyping in 45 Maori (the target group). Of these 37
SNPs, 19 had allele frequency differences between HapMap CEU and Maori
populations of less than 0.2, and only 2 SNPs had allele frequency
differences greater than 0.5.
\subsubsection{Marker Association Values Across the Entire Genome}
\label{sec:meth-summ-genotyping-ranking}
...
$5^\prime$ end of the reference strand).