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Table 1.

Sample and analysis overview

		SOC			Manual de novo assembly			Local guided assembly			Molecule distance script
Sample ID	Sample material	Allele 1	Allele 2	Conclusion	Allele 1	Allele 2	Conclusion	Allele 1	Allele 2	Conclusion	Somatic instability
CNBP_01	EDTA blood	>75	18	Detected	3681	20	Detected	61	0		–
CNBP_02	EDTA blood	>75	15	Detected	6331	39	Detected	5000	10	Detected	A + B
CNBP_03	EDTA blood	>75	13	Detected	6517	53	Detected	3659	23	Detected	A + B
CNBP_04	EDTA blood	>75	15	Detected	7155	−27	Detected	4401	4	Detected	A + B
CNBP_05	EDTA blood	>75	15	Detected	8042	0	Detected	3521	33	Detected	A + B
CNBP_06	EDTA blood	>75	15	Detected	−14	−15		3687	21	Detected	A + B
CNBP_07	EDTA blood	>75	16	Detected	5212	−12	Detected	5000	10	Detected	A + B
CNBP_08	EDTA blood	>75	17	Detected	2502	2	Detected	2661	12	Detected	A + B
CNBP_10	EDTA blood	>75	13	Detected	2874	−20	Detected	2963	11	Detected	A + B
CNBP_11	EDTA blood	>75	16	Detected	375	11	Detected	254	34	Detected	A + B
CNBP_12	EDTA blood	>75	Normal	Detected	3471	−16	Detected	3346	14	Detected	A
CNBP_13	EDTA blood	>75	16	Detected	4634	−14	Detected	4330	3	Detected	A + B
CNBP_14	EDTA blood	>75	16	Detected	5244	−2	Detected	4186	49	Detected	A + B
CNBP_15	EDTA blood	>75	Normal	Detected	2183	−1	Detected	2092	18	Detected	A + B
CNBP_16	EDTA blood	>75	Normal	Detected	3221	320	Detected	3201	0	Detected	A + B
CNBP_17	EDTA blood	>75	9	Detected	6275	−13	Detected	5000	2	Detected	A + B
CNBP_18	EDTA blood	>75	15	Detected	1915	−29	Detected	1656	15	Detected	A + B
CNBP_19	EDTA blood	>75	Normal	Detected	1460	−2	Detected	1574	0	Detected	A + B
CNBP_20	EDTA blood	>75	Normal	Detected	3977	−7	Detected	3577	11	Detected	A + B
CNBP_21	EDTA blood	>75	18	Detected	288	30	Detected	244	8	Detected	A + B
CNBP_22	EDTA blood	>75	17	Detected	1683	−24	Detected	1725	70	Detected	A + B
CNBP_23	EDTA blood	>75	12	Detected	2131	−25	Detected	2515	8	Detected	A + B
CNBP_24	EDTA blood	134	Normal	Detected	−13	−14		3618	10	Detected	A + B
CNBP_25	EDTA blood	>75	Normal	Detected	1476	−19	Detected	2626	9	Detected	A + B
CNBP_26	EDTA blood	>135	Normal	Detected	3737	14	Detected	3241	45	Detected	A + B
DMPK_01	EDTA blood	>150	11	Detected	269	55	Detected	247	35	Detected	–
DMPK_02	EDTA blood	>150	11	Detected	456	47	Detected	473	30	Detected	–
DMPK_03	EDTA blood	>150	5	Detected	252	57	Detected	116		Detected	–
DMPK_04	EDTA blood	61	11	Detected	66	66	Detected	60	27	Detected	B
DMPK_05	EDTA blood	>150	5	Detected	457	54	Detected	485	30	Detected	A + B
DMPK_06	EDTA blood	127	5	Detected	64	64	Detected	82	81	Detected	B
DMPK_07	EDTA blood	>150	12	Detected	378	28	Detected	358	20	Detected	–
DMPK_08	EDTA blood	91	5	Detected	67	67	Detected	49			B
DMPK_09	EDTA blood	96–130	5	Detected	71	71	Detected	68		Detected	–
DMPK_10	Cell pellet	>150	12	Detected	2829	37	Detected	2825	12	Detected	A + B
DMPK_11	Cell pellet	>150	5	Detected	233	58	Detected	231	12	Detected	A + B
DMPK_12	Cell pellet	>150	13	Detected	213	24	Detected	219	34	Detected	B
DMPK_13	Cell pellet	>150	13	Detected	163	21	Detected	167	33	Detected	A + B
DMPK_14	Cell pellet	>150	13	Detected	202	10	Detected	188	7	Detected	B
DMPK_15	Cell pellet	>150	6	Detected	1839	28	Detected	1768	53	Detected	A + B
DMPK_16	EDTA blood	>150	12	Detected	85	85	Detected	52		Detected	B
DMPK_17	EDTA blood	>150	5	Detected	491	41	Detected	510	15	Detected	A + B
DMPK_18	EDTA blood	>150	5	Detected	71	71	Detected	69		Detected	B
DMPK_19	EDTA blood	73	12	Detected	54	54	Detected	61	0	Detected	B
DMPK_20	EDTA blood	>150	5	Detected	55	55	Detected	41			B
DMPK_21	EDTA blood	>150	12	Detected	1366	43	Detected	1347	23	Detected	B
DMPK_22	EDTA blood	74	13	Detected	31	31		61	6	Detected	A + B
DMPK_23	EDTA blood	>150	7	Detected	372	17	Detected	369	25	Detected	A + B
DMPK_24	EDTA blood	130	5	Detected	82	82	Detected	93	78	Detected	A + B
DMPK_25	EDTA blood	159	5	Detected	79	79	Detected	109	63	Detected	B
DMPK_26	EDTA blood	88	13	Detected	45	45		29	0		A
DMPK_27	EDTA blood	>150	5	Detected	1648	21	Detected	20	12		B
DMPK_28	EDTA blood	>150	14	Detected	440	41	Detected	393	3	Detected	B
DMPK_29	EDTA blood	>150	12	Detected	320	20	Detected	310	12	Detected	B
DMPK_30	EDTA blood	>150	29	Detected	290	63	Detected	131		Detected	B
RFC1_01	EDTA blood	≫AAGGG	≫AAGGG	Homozygous	1487	1174	Biallelic	1497	1160	Biallelic	A
RFC1_02	EDTA blood	≫AAGGG	≫AAAGG	Biallelic	738	452	Biallelic	751	458	Biallelic	–
RFC1_03	EDTA blood	≫AAGGG	≫AAAAG	Biallelic	883	111	Biallelic	897	126	Biallelic	A
RFC1_04	EDTA blood	≫AAGGG	≫AAAAG	Biallelic	750	97	Biallelic	760	99	Biallelic	–
RFC1_05	EDTA blood	≫AAGGG	11 AAAAG	Monoallelic	1167	−5	Monoallelic	1175	4	Monoallelic	A + B
RFC1_06	EDTA blood	≫AAAAG	≫AAAAG	Homozygous	1565	1278	Biallelic	1579	1283	Biallelic	A
RFC1_07	EDTA blood	≫AAGGG	11 AAAAG	Monoallelic	625	−3	Monoallelic	643	10	Monoallelic	–
RFC1_08	EDTA blood	≫AAGGG	≫AAGGG	Homozygous	840	840	Homozygous	856	856	Homozygous	–
RFC1_09	EDTA blood	≫AAGGG	≫AAGGG	Homozygous	1506	770	Biallelic	1499	778	Biallelic	A
RFC1_10	EDTA blood	≫AAGGG	≫AAGGG	Homozygous	1289	1175	Biallelic	1307	1131	Biallelic	A
RFC1_11	EDTA blood	≫AAGGG	≫AAGGG	Homozygous	812	812	Homozygous	818	818	Homozygous	–
RFC1_12	EDTA blood	≫AAGGG	≫AAGGG	Homozygous	1106	895	Biallelic	1121	888	Biallelic	A
RFC1_13	EDTA blood	≫AAGGG	≫AAGGG	Homozygous	927	927	Homozygous	933	933	Homozygous	–
RFC1_14	EDTA blood	≫AAGGG	≫AAGGG	Homozygous	725	725	Homozygous	740	737	Biallelic	–
RFC1_15	EDTA blood	≫AAGGG	≫AAGGG	Homozygous	873	811	Biallelic	887	783	Biallelic	A
RFC1_16	EDTA blood	≫AAGGG	11 AAAAG	Monoallelic	1104	−11	Monoallelic	1097	4	Monoallelic	A + B
RFC1_17	EDTA blood	≫AAGGG	9 AAAAG	Monoallelic	711	−1	Monoallelic	723	8	Monoallelic	B
RFC1_18	EDTA blood	≫AAGGG	≫AAGGG	Homozygous	1444	1134	Biallelic	1474	1127	Biallelic	A + B
RFC1_19	EDTA blood	≫AAGGG	≫AAGGG	Homozygous	223	40	Biallelic	235	51	Biallelic	A
RFC1_20	EDTA blood	≫AAGGG	≫AAAAG	Biallelic	494	100	Biallelic	502	106	Biallelic	–
RFC1_21	EDTA blood	≫AAGGG	≫AAGGG	Homozygous	703	600	Biallelic	715	600	Biallelic	A + B
RFC1_22	EDTA blood	≫AAGGG	≫AAGGG	Homozygous	1161	905	Biallelic	1180	911	Biallelic	A
RFC1_23	EDTA blood	≫AAGGG	≫AAGGG	Homozygous	1028	701	Biallelic	1054	733	Biallelic	–
RFC1_24	EDTA blood	≫AAGGG	11 AAAAG	Monoallelic	602	2	Monoallelic	615	11	Monoallelic	A
RFC1_25	EDTA blood	≫AAGGG	≫AAGGG	Homozygous	855	854	Biallelic	868	868	Homozygous	–
RFC1_26	EDTA blood	≫AAGGG	≫AAGGG	Homozygous	714	573	Biallelic	734	585	Biallelic	–
RFC1_27	EDTA blood	≫AAGGG	≫AAGGG	Homozygous	973	973	Homozygous	987	403	Biallelic	A
RFC1_28	EDTA blood	≫AAGGG	≫AAGGG	Homozygous	875	875	Homozygous	893	893	Homozygous	–
RFC1_29	EDTA blood	≫AAGGG	≫AAGGG	Homozygous	1071	890	Biallelic	1073	905	Biallelic	–
RFC1_30	EDTA blood	≫AAGGG	≫AAAAG	Biallelic	743	74	Biallelic	754	85	Biallelic	A

[i] For each sample, this table presents the SOC result, as well as the repeat size estimates from the two OGM sizing workflows in repeat units (manual de novo assembly and local guided assembly) and the somatic instability assessment from the molecule distance script workflow. For CNBP and DMPK, the table indicates whether the dominant repeat allele was detected (Detected). For RFC1, we also checked whether OGM identified a monoallelic, biallelic, or homozygous repeat expansion. For the molecule distance script, “A” denotes multiple consensus maps, and “B” denotes a gradient in the molecule distances. We considered somatic instability in cases where both “A + B” provided suggestive evidence.