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Biological Functions of the Detected Short IBD Segments

We characterize IBD segments with respect to their possible effects on biological functions. The ANNOVAR (21) software was used to annotate IBD segments as being within coding or promoter regions. 13,796 IBD segments overlap with exons, 249 are near splice sites, 86,164 are intronic, 12,645 overlap with promoter regions (1 kbp region upstream of the transcription start site), 111,998 are intergenic, and the remaining are downstream, ncRNA-related, or UTR3/UTR5-related. Out of the 13,796 exonic IBD segments, 30 contain a frameshift deletion, 171 a frameshift insertion, 2 a frameshift substitution, 9,870 contain a non-synonymous SNV, 179 a stopgain SNV, 12 a stoploss SNV, and 9,230 a synonymous SNV. An IBD segment can have more than one SNV of any of these categories. The tendency of observing more short IBD segments in introns or intergenic regions than in exons may be caused by a higher recombination rate in introns and intergenic regions. This would confirm other results on recombination rates (22). DNA regions close to exons may be subject to natural selection which leads to less recombinations than in other regions.


next up previous contents
Next: Sharing of IBD Segments Up: Summary of the Results Previous: Summary Statistics of the   Contents
Sepp Hochreiter 2013-11-13