Figure 1

Connections between AS, RHS, false negative, type A false positive, and type B false positive values. (A) In a family with a consanguineous marriage, a loop is formed in the pedigree (bold lines). A chromosomal segment that is separately inherited through both sides of the arc becomes homozygous in an offspring and forms an autozygous segment. (B) (i) a chromosomal region with 2 ASs (dark gray boxes). (ii) An RHS is a region whose genetic length greater than the cutoff value. (iii) Relationship of an RHS and an AS. ASs are shown by dark gray boxes, and RHSs are shown by light gray boxes. Three types of errors are defined: false negative, type A false positive, and type B false positive. (C) Principle used for the genotyping error correction. If a homozygous SNP in an RHS is mistyped and becomes heterozygous, it is likely to have a greater distance (i.e. x + y) from the adjacent heterozygous SNPs than a heterozygous SNP that exists in another part of the autosomes. Therefore, heterozygous SNPs with a large x +y are likely to be mistyped.