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Although the current build of the reference genome (Gallus_gallus_4.0) represents ~96% of the chicken genome, some of the smaller micro-chromosomes are not yet represented [ 15].
The reference allele was defined as the allele present in the hg19 build of the reference sequence of the human genome.
For this example, we are going to use an indexed BAM file from the 1000 genomes project, a high-coverage Illumina sequence from an anonymous individual, mapped onto chromosome 1 of the GRCh37 build of the reference genome.
A total of 17,489 SNPs were identified and, as expected, more SNPs were found on chromosomes for which more sequence was available in the build of the reference genome [ 14].
To test this hypothesis, we aligned sequences of all alleles present in PAG2014 to the HLA sequences present in the hg19 build of the reference human genome (the same sequences used for the alignment of reads in the 1000 Genomes Project) and defined windows of 51 base pairs around each SNP.
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Obviously, for most of these commercial animals, records are likely to be unbiased and they will build up the reference population of the future.
Following this step, data points were filtered out based on SNP call rate, call reproducibility, or marker specificity (i.e. markers mapping to more than 4 locations in the hg18 build of the human reference genome) as in Oldridge et al 2010 [16].
To help address these and similar questions we created iRefWeb (http://wodaklab.org/iRefWeb), a web interface to the latest build of the Interaction Reference Index (iRefIndex) repository (32).
We found that 16 MammaPrint reporter genes annotated in the most recent build of the human reference genome sequence are E2 regulated (Fig. 3a).
In a paper in 2009, a microsatellite marker on 19p13 was associated to disease outcome, but upon our inspection in a later build of the genome reference, it appears that this marker is more likely to reside at 19q13, an area with several published associations from both linkage and association analysis.
The restrictions impose that 1) sample i is not used to compute its own reference and 2) only positive weights are allowed, i.e. if samples i and k are so different that the corresponding coefficient γ i, k is negative, sample k is not used to build the reference of sample i instead of giving it a counter-intuitive negative weight.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com