Interpretation of personal genome sequencing data in terms of disease ranks based on mutual information

BMC Medical Genomics

Table 1 Distribution of variants by SIFT score in the AML patients and the healthy controls

SIFT		AML patients		Healthy controls in the 1000 Genomes Project
Score	Impact	No. of variants	%	No. of variants	%	No. of variants	%	No. of variants	%
0	Damaging	131	26.52	421	18.21	339	17.51	333	19.44
0.001-0.050	Damaging	73	14.78	375	16.22	290	14.99	260	15.18
0.051-0.100	Potentially damaging	25	5.06	173	7.48	146	7.55	129	7.53
0.101-0.200	Borderline	28	5.67	295	12.76	242	12.51	190	11.09
0.201-0.500	Tolerant	63	12.75	441	19.07	358	18.50	326	19.03
0.501-0.999	Tolerant	53	10.73	298	12.89	245	12.66	212	12.38
1.00	Tolerant	121	24.49	309	13.37	315	16.28	263	15.35
Total		494	100.00	2312	100.00	1935	100.00	1713	100.00

ISSN: 1755-8794