Table 3 Allele frequency in the mixture of maternal and fetal cell-free DNA
From: Inferring fetal fractions from read heterozygosity empowers the noninvasive prenatal screening
MM-FF | Prob | fA |
|---|---|---|
AA-AA | \(p(p + qF_1)(p + qF_2)\) | \(1 - e_{AB}\) |
AB-AB | \(pq(1 - F_1)(1 - F_2)\) | \(1/2 + 1/2(e_{BA} - e_{AB})\) |
BB-BB | \(q(q + pF_1)(q + pF_2)\) | eBA |
AA-AB | \(pq(p + qF_1)(1 - F_2)\) | \((1 - h/2)(1 - e_{AB}) + h/2e_{BA}\) |
BB-AB | \(pq(q + pF_1)(1 - F_2)\) | \(h/2 + e_{AB} - h/2(e_{AB} + e_{BA})\) |
AB-AA | \(pq(1 - F_1)(p + qF_2)\) | \((1/2 + h/2)(1 - e_{BA}) + (1/2 - h/2)e_{AB}\) |
AB-BB | \(pq(1 - F_1)(q + pF_2)\) | \((1/2 - h/2)(1 - e_{BA}) + (1/2 + h/2)e_{AB}\) |
