TABLE 4.

Mastermind has increased sensitivity for identifying references for literature curation for CNVs.

Cytoband	Chr	Start	End	Disease name(s)	Total references identified in Mastermind	Total exact matches identified in Mastermind	Total references identified in PubMed	Ratio of references identified in Mastermind/PubMed	Ratio of references containing exact matches in Mastermind/PubMed	Key references
11q23	chr11	110,600,000	121,300,000	Jacobsen syndrome, 11q23 deletion syndrome	7,926	1,625	490	16.2	3.3	31895838, 29307309
14q32.2	chr14	95,800,000	100,900,000	Kagami–Ogata syndrome	2,470	147	30	82.3	4.9	30232357
15q11.2	chr15	20,500,000	25,500,000	15q11.2 BP1–BP2 microdeletion syndrome, Burnside-Butler syndrome	4,095	850	268	15.3	3.2	30342661, 28254235, 25689425, 31207912
17p11.2	chr17	16,100,000	22,700,000	Smith–Magenis syndrome	3,604	1,093	403	8.9	2.7	29138588, 20301487
17q12	chr17	33,500,000	39,800,000	17q12 microdeletion syndrome, 17q12 deletion and duplication syndrome, 17q12 deletion syndrome	4,677	619	169	27.7	3.7	27409573, 29060963, 30032214, 32219821
18q21.1	chr18	45,900,000	50,700,000	Pitt–Hopkins syndrome	2,525	344	71	35.6	4.8	28520343, 22934316
22q11.2	chr22	17,400,000	25,500,000	22q11.2 Deletion syndrome (22q11.2DS)	13,363	4,808	2,086	6.4	2.3	32117416, 20301696, 30380194
22q13.3	chr22	43,800,000	50,818,467	Phelan-McDermid syndrome, 22q13.3 deletion syndrome	2,882	545	116	24.8	4.7	20301377, 26350728
2q22.3	chr2	143,400,000	147,900,000	Mowat–Wilson syndrome	1,099	52	11	99.9	4.7	19215041, 20301585
4q35.1	chr4	182,300,000	186,200,000	Terminal chromosome 4q deletion syndrome	2,312	100	19	121.7	5.3	24962056
				Average	4,495	1,018	366	43.9	4.0
				Min	1,099	52	11	6.4	2.3
				Max	13,363	4,808	2,086	121.7	5.3