Identity by descent
A DNA segment is identical by state (IBS) in two or more individuals if they have identical nucleotide sequences in this segment. An IBS segment is identical by descent (IBD) (note: the acronym IBD is also used for another concept in population genetics, isolation by distance) in two or more individuals if they have inherited it from a common ancestor without recombination, that is, the segment has the same ancestral origin in these individuals. DNA segments that are IBD are IBS per definition, but segments that are not IBD can still be IBS due to the same mutations in different individuals or recombinations that do not alter the segment.
All individuals in a finite population are related if traced back long enough and will, therefore, share segments of their genomes IBD. During meiosis segments of IBD are broken up by recombination. Therefore, the expected length of an IBD segment depends on the number of generations since the most recent common ancestor at the locus of the segment. The length of IBD segments that result from a common ancestor n generations in the past (therefore involving 2n meiosis) is exponentially distributed with mean 1/(2n) Morgans (M). The expected number of IBD segments decreases with the number of generations since the common ancestor at this locus. For a specific DNA segment, the probability of being IBD decreases as 2−2n since in each meiosis the probability of transmitting this segment is 1/2.
Identified IBD segments can be used for a wide range of purposes. As noted above the amount (length and number) of IBD sharing depends on the familial relationships between the tested individuals. Therefore, one application of IBD segment detection is to quantify relatedness. Measurement of relatedness can be used in forensic genetics, but can also increase information in genetic linkage mapping and help to decrease bias by undocumented relationships in standard association studies. Another application of IBD is genotype imputation and haplotype phase inference. Long shared segments of IBD, which are broken up by short regions may be indicative for phasing errors.
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