PMC:4564992 / 12431-13207 JSONTXT

{"project":"2_test","denotations":[{"id":"26320892-21181895-2052529","span":{"begin":158,"end":160},"obj":"21181895"}],"text":"For case-parent trios, 15 possible genotype combinations (gm,gf,gc) can occur in a mother, father, and child at any given SNP (see Table 2 of Ainsworth et al.20). EMIM fits a multinomial model to the observed counts in these 15 categories. The only configuration in which it is not possible to determine the parental origin is when all three individuals are heterozygous. That is, if we denote the minor allele by “2” and the major allele by “1,” then if both parents and the child have genotype “1/2,” it is not known whether the “2” allele came from the father or the mother. (Throughout this paper we use “2” to denote the minor allele, which is also considered, for convenience, to be the risk allele, although in practice either allele can be modeled as the risk allele)."}