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Fig. 1 | BMC Genomics

Fig. 1

From: Interlocus gene conversion explains at least 2.7 % of single nucleotide variants in human segmental duplications

Fig. 1

Detecting signals of historical interlocus gene conversion in polymorphism data. a An IGC event can transfer an allele from one paralog to another, resulting in shared polymorphic sites or “parallelisms”. b To systematically identify such sites, high-quality paralog alignments can be integrated with dense polymorphism data to identify aligned positions that are polymorphic in both paralogs and segregate identical alleles. c Such sites may also arise by parallel mutation events that occurred independently during the independent evolution of each paralog. However, parallel mutation should more frequently result in aligned polymorphic positions that segregate alternative alleles (d)

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