Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing

Chen, Chao; Chen, Min; Zhu, Yaping; Jiang, Lu; Li, Jia; Wang, Yaoshen; Lu, Zhe; Guo, Fengyu; Wang, Hairong; Peng, Zhiyu; Yang, Yun; Sun, Jun

doi:10.1186/s12920-021-01091-x

Table 3 The NIPD results

From: Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing

Family	Gene	No. of Maternal Informative SNPs	No. of Paternal Informative SNPs	CS_mat (%)	CS_pat (%)	NIPD (mat/pat)	Invasive prenatal diagnosis (mat/pat)
F01	HBB	1260	305	100	100	N/N	N/N
F02	HBB	1073	607	100	100	N/N	N/N
F03	HBB	521	566	100	100	c.126_129delCTTT/c.-78A>G	c.126_129delCTTT/c.-78A>G
F04	HBB	394	317	100	100	N/c.126_129delCTTT	N/c.126_129delCTTT
F05	HBB	255	555	100	100	c.126_129delCTTT/N	c.126_129delCTTT/N
F06	HBB	268	453	100	100	c.216_217insA/T/ c.126_129delCTTT	c.216_217insA/T/ c.126_129delCTTT
F07	HBB	697	695	100	100	N/c.126_129delCTTT	N/c.126_129delCTTT
F08	HBB	636	442	100	100	c.126_129delCTTT/N	c.126_129delCTTT/N
F09	HBB	669	553	100	100	c.52A>T/N	c.52A>T/N
F10	HBB	908	594	100	100	c.126_129delCTTT/c.79G>A	c.126_129delCTTT/c.79G>A
F11	HBB	603	380	100	100	c.126_129delCTTT/c.126_129delCTTT	c.126_129delCTTT/c.126_129delCTTT
F12	HBB	1029	550	100	100	N/c.126_129delCTTT	N/c.126_129delCTTT
F13	HBA	53	18	100	100	- -^SEA/- -^SEA	- -^SEA/- -^SEA
F14	HBA	235	52	100	100	N/N	N/N
F15	HBA	118	84	100	100	N/- -^SEA	N/- -^SEA
F16	HBA	193	78	100	100	- -^SEA/- -^SEA	- -^SEA/- -^SEA
F17	HBA	361	140	100	100	- -^SEA/c.369C>G	- -^SEA/c.369C>G
F18	MMACHC	775	228	100	100	c.609G>A/N	c.609G>A/N
F19	MMACHC	298	424	100	100	N/c.609G>A	N/c.609G>A
F20	MMACHC	97	175	100	100	N/N	N/N
F21	MMACHC	348	361	100	100	N/N	N/N
F22	MMACHC	285	49	100	100	c.80A>G/N	c.80A>G/N
F23	MMACHC	531	300	100	100	c.609G>A/c.441TG[2]	c.609G>A/c.441TG[2]
F24	MMACHC	15	420	100	100	N/N	N/N
F25	MMACHC	79	7	100	100	N/N	N/N
F26	MMACHC	492	107	100	100	c.609G>A/c.658-660delAAG	c.609G>A/c.658-660delAAG
F27	MMACHC	353	NA	100	NA	N/NA	N/N
F28	MMACHC	474	457	100	100	N/N	N/N
F29	MMACHC	319	469	100	100	c.315C>G/N	c.315C>G/N
F30	MMACHC	776	42	100	100	N/N	N/N
F31	PAH	69	321	100	100	c.1197A>T/c.764T>C	c.1197A>T/c.764T>C
F32	PAH	362	185	100	100	N/c.770G>T	N/c.770G>T
F33	PAH	161	147	100	100	N/N	N/N
F34	PAH	262	95	100	100	N/N	N/N
F35	PAH	13	174	100	100	c.977G>A/N	c.977G>A/N
F36	PAH	188	NA	100	NA	NC [*]/NA	c.473G>A/c.208_210delTCT
F37	PAH	261	164	100	100	N/N	N/N
F38	PAH	406	561	100	100	c.728G>A/c.721C>T	c.728G>A/c.721C>T
F39	PKHD1	971	267	100	100	N/c.5137G>T	N/c.5137G>T
F40	GJB2	29	53	100	100	c.235delC/N	c.235delC/N

*NC no-call, NA not applicable, No. number, CS_mat confidence score for fetal inheritance from maternal haplotype, CS_pat confidence score for fetal inheritance from paternal haplotype

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ISSN: 1755-8794

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