Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method

BMC Genomics

Table 8 Large abnormalities in cleft samples

CIDR_Name	Chr	Loc	Type	PO	SNPs	Inf	Det	mBAF	LRR	#Reg
12254_01	16	pT	UPiD	M	3830	574	MI1	0.51	−0.037	1
12254_01	16	pC,q	UPhD	M	13095	971	POD	0.50	−0.027	2
16194_01	10	qT	DEL	F	2578	431	MI1	0.94	−0.475	1
17008_01	2	W	UPiD	F	49497	6727	MI1	0.87	0.008	2
18113_01	11	qT	DEL	F	1883	337	MI1	0.88	−0.408	1
19004_01	13	qT	AMP	F	13467	1776	POD	0.64	0.240	1
19143_01	18	qT	DEL	F	4150	613	MI1	0.92	−0.521	3
20127_01	11	qT	UPiD	F	16191	2064	POD	0.55	0.004	1
20183_01	13	qT	UPiD	F	21216	2505	POD	0.56	0.022	1
21089_01	20	q	UPiD	M	7420	937	POD	0.58	−0.018	1
21098_01	21	q	UPhD	M	8817	588	POD	0.50	0.003	1
21186_01	17	q	NA	F(C)	10102	422	POD	0.52	0.012	1
21230_01	11	pI	AMP	M	4836	380	POD	0.64	0.227	1
23020_01	18	qT	DEL	F	4358	672	MI1	0.89	−0.614	1

CIDR_Name sample identifier from the Center for Inherited Disease Research; Loc the location of the abnormality on the chromosome (p=p arm, q=q arm, W=entire chromosome, T=telomeric end, C=centromeric end, I=interstitial); PO parental origin (F=paternal origin, M=maternal origin, F(C)=paternal contribution, M(C)=maternal contribution); SNPs=number of SNPs in the detected region; Inf=number of SNPs in the detected region which were informative for the detection algorithm; Det=detection algorithm; #Reg=the number of separate regions reported within a single large abnormality.