Table 2.

Results of epigenetic analysis using the Jones et al. method.

Subject	BSSA Avg	BSSA Q1	BSSA Q2	BSSA Q3	BSSX Avg	BSSX Q1	BSSX Q2	BSSX Q3	Epigenetic Diagnosis
C-01	58	51.8	54.5	65.2	48	24.55	45.3	68.95	Healthy
C-02	54.4	48.2	54.35	62.5	62	46.6	71.2	76.3	Healthy
C-03	61.2	56.75	61.6	67.9	60.9	52.55	66.1	72.05	Healthy
C-04	61.8	52.7	61.6	70.5	53.9	38.15	55.9	67.8	Healthy
C-05	52.8	42.9	56.25	64.3	56.8	34.2	64.4	78	Healthy
C-06	64.6	59.8	69.1	73.2	55.3	46.65	52.5	65.25	Healthy
C-07	58.2	52.25	55.4	65.15	48.1	31.6	43.25	61.85	Healthy
C-08	52.1	42.9	51.8	60.7	37.5	20.03	35.05	44.95	Healthy
F1-01	30.9	0.9	28.6	58.95	37.6	22	33.9	58.95	FSHD1
F1-02	48.1	7.1	39.3	67	50.6	35.6	48.3	68.65	FSHD1
F1-03	27.3	23.2	25.9	33.9	53.6	10.2	71.2	86.4	FSHD1
F1-04	21.4	11.7	20.5	26.15	37.21	20.3	37.3	60.7	FSHD1
F1-05	15.4	10.7	16.1	21.4	61.6	57.8	68.25	73.3	FSHD1
F1-06	35.2	8.9	28.55	62.5	51.3	33.1	55.2	71.2	FSHD1
F1-07	31.9	1.8	27.95	68.75	64.2	49.15	69.5	78	FSHD1
F1-08	32.9	8	14.3	60.35	63.8	61	67.8	79.7	FSHD1
F2-01	16.9	6.25	17.85	26.8	27.6	15.3	20.5	36.2	FSHD2
F2-02	13.1	4.55	10.7	19.6	15.2	8.55	13.6	17.75	FSHD2
F2-03	4.8	0.9	1.8	3.6	9.1	4.25	7.65	13.6	FSHD2
F2-04	21.1	10.7	17	32.1	12.2	5.1	7.75	16.9	FSHD2
F2-05	6.4	1.85	5.4	7.1	8.4	3.4	6.8	12.75	FSHD2
F2-06	5.5	3.6	5.4	7.1	13	3.4	8.5	20.3	FSHD2

The Jones et al. BSSA analysis utilizes the relevant quartile (yellow boxes), which corresponds to Q1 for those with two 4A161 alleles and Q2 for those with one 4A161 allele, to determine the methylation status. Conversely, the Gaillard et al. analysis utilizes the average methylation (orange column) to determine the methylation status of a sample. Both analyses would use average methylation for BSSX assessment (green column). The epigenetic diagnosis is based on the Jones et al. method metrics. ND = not determined.