Locations and patterns of meiotic recombination in two-generation pedigrees

BMC Medical Genetics

Table 1 PediSNP plotting schema

Child1	Child2	Parent	PediSNP track
AA	AA	AA	None (noninformative)
AA	AA	AB	Track 2 (Identical)
AA	AA	BB	Track 1
AA	AB	AA	None (noninformative)
AA	AB	AB	None (noninformative)
AA	AB	BB	Track 3
AA	BB	AA	Track 5
AA	BB	AB	Track 4 (Opposite)
AA	BB	BB	Track 3
AB	AA	AA	None (noninformative)
AB	AA	AB	None (noninformative)
AB	AA	BB	Track 5
AB	AB	AA	None (noninformative)
AB	AB	AB	None (noninformative)
AB	AB	BB	None (noninformative)
AB	BB	AA	Track 5
AB	BB	AB	None (noninformative)
AB	BB	BB	None (noninformative)
BB	AA	AA	Track 3
BB	AA	AB	Track 4 (Opposite)
BB	AA	BB	Track 5
BB	AB	AA	Track 3
BB	AB	AB	None (noninformative)
BB	AB	BB	None (noninformative)
BB	BB	AA	Track 1
BB	BB	AB	Track 2 (Identical)
BB	BB	BB	None (noninformative)

The schema shows all 27 allele combinations for pedigrees with child1/child2/parent1. Two allele combinations signify identical inheritance by the children (AA/AA/AB and BB/BB/AB). The child1/child2/parent1 combinations AA/BB/AB and BB/AA/AB are informative in pediSNP, denoting opposite inheritance of alleles by the two siblings with respect to a parent. pediSNP implements the schema described in this table and in Additional File 1. In most circumstances the other SNP combinations occur only rarely (e.g. AA/BB/BB in child1/child2/parent1 reflects either a genotyping error or uniparental inheritance) or are not plotted (e.g. AA/AA/AA in child1/child2/parent1 is considered noninformative and is not plotted).

ISSN: 1471-2350