BasePhasing: a highly efficient approach for preimplantation genetic haplotyping in clinical application of balanced translocation carriers

Table 3 The characteristics and BasePhasing results of the patients in this study

Sample	Karyotype or Grade of blastocysts	ASA call rate	Karyomap-12 call rate	Results of BasePhasing	Results of Karyomap-12
Family 1
Mother	46,XX	0.9862835	0.9842981
Father	46,XY,t(1:5)(q21;q35) de novo	0.9897337	0.9838287
Embryo-1	4BB	0.9643379	0.9607865	Normal	Normal
Embryo-2	4AB	0.9549406	0.9446636	Normal	Normal
Embryo-3	5BB	0.9460028	0.9430658	Carrier	Carrier
Embryo-4	5AB	0.9454245	0.9396804	Unbalanced	Unbalanced
Embryo-5	5AB	0.9342148	0.9312841	Normal	Normal
Embryo-6	5 BC	0.9626743	0.9603586	Carrier	Carrier
Embryo-7	4BB	0.9572856	0.951569	Unbalanced	Unbalanced
Embryo-8	4 BC	0.9062205	0.8713027	Unbalanced	Unbalanced
Family 2
Mother	46,XX	0.9946477	0.9843602
Father	46,XY,t(6;7)(q23;q34) mat	0.9950734	0.9892606
Embryo-1	5BB	0.9273288	0.9067822	Normal	Normal
Embryo-2	5AB	0.9126197	0.8760443	Carrier	Carrier
Embryo-3	5AB	0.9505755	0.9167728	Carrier	Carrier
Embryo-4	5BB	0.9222872	0.9001667	Normal	Normal
Embryo-5	5BB	0.9429535	0.9313635	Carrier	Carrier
Embryo-6	5 AC	0.9406152	0.9309729	Unbalanced	Unbalanced
Embryo-7	5 BC	0.9419208	0.9253105	Unbalanced	Unbalanced
Embryo-8	5BB	0.9403009	0.9343323	Unbalanced	Unbalanced
Embryo-9	5 BC	0.9533952	0.945755	Unbalanced	Unbalanced
Embryo-10	5 BC	0.9147238	0.9127144	Unbalanced	Unbalanced

Mat: the balanced translocation was inherited from carrier’s mother. The karyotypes were identified by peripheral blood cells

ISSN: 1755-8794