MinorityReport, software for generalized analysis of causal genetic variants

Malaria Journal

Table 1 Sample MinorityReport output

Sample	Score	Chromosome	Genomic mutation	Gene mutation	Protein mutation	Mutant			Parent			Gene id	Strand	Protein length	Gene description
Sample	Score	Chromosome	Genomic mutation	Gene mutation	Protein mutation	Mutation counts	Mutation proportion	Position counts	Mutation counts	Mutation proportion	Position counts	Gene id	Strand	Protein length	Gene description
S71	4.7	chr12	G531532A	C1267T	A423 V	43	0.977	44	12	0.017	693	PF3D7_1211900	−	1264	Non-SERCA-type Ca2 Transporting P-ATPase (ATP4)
	3.8	chr12	G531566T	C1233A	P412T	30	1	30	3	0.004	684	PF3D7_1211900	−	1264	Non-SERCA-type Ca2 Transporting P-ATPase (ATP4)
	3.3	chr6	C1111087A	C2890A	A964D	31	1	31	3	0.006	522	PF3D7_0627700	+	1147	Transportin
S72	5.5	chr12	A531751T	T1048A	L350H	89	0.989	90	2	0.003	729	PF3D7_1211900	−	1264	Non-SERCA-type Ca2 Transporting P-ATPase (ATP4)
S81	3.9	chr12	A531556T	T1243A	V415D	34	1	34	3	0.005	654	PF3D7_1211900	−	1264	Non-SERCA-type Ca2 Transporting P-ATPase (ATP4)
s82	6.4	chr12	A531751T	T1048A	L350H	52	0.981	53	2	0.003	729	PF3D7_1211900	−	1264	Non-SERCA-type Ca2 Transporting P-ATPase (ATP4)
s83	4.3	chr12	G531566T	C1233A	P412T	72	0.973	74	3	0.004	684	PF3D7_1211900	−	1264	Non-SERCA-type Ca2 Transporting P-ATPase (ATP4)
	3.2	chr6	C1111087A	C2890A	A964D	60	1	60	3	0.006	522	PF3D7_0627700	+	1147	Transportin

MinorityReport output can be combined across multiple strains (s71, s72, s81, s82, s83) derived from the same parent strain in independent resistance experiments. The priority score aids identification of variants that reach near purity in mutant strains relative to the parent strain, with strong supporting evidence. The gene containing a mutation in all strains, here ATPase4, is the known determinant of resistance. Shown are all variants reported when using the default thresholds

ISSN: 1475-2875