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. 2020 Nov 13;11:577152. doi: 10.3389/fgene.2020.577152

TABLE 2.

Mastermind has increased sensitivity and specificity for evidence curation for genetic variants.

Mastermind
 Google scholar
 PubMed
 ClinVar
Gene Variant Total number of papers Papers that are true positives (%) Number of true positive references Total number of papers Papers that are true positives (%) Number of true positive references Total number of papers Papers that are true positives (%) Number of true positive references Total number of papers Papers that are true positives (%) Number of true positive references References only found in Master mind Additional references found in Master mind Reference missing in Master mind Resource with reference missing in master mind
ABCC6 R760W 8 100 8 10 50 5 0 – 0 0 – 0 More
ABCC8 N188S 27 100 27 17 64.7 11 1 100 1 14 100 14 More
AGA A101V 6 83.3 5 13 23.1 3 0 – 0 4 100 4 More
ALPL R152H 15 93.3 14 16 62.5 10 0 – 0 12 66.7 8 More
AMPD1 Q45K 78 39.7 31 0 – 0 0 – 0 0 – 0 Only More
ANO10 D615N 5 100 5 4 100 4 0 – 0 1 100 1 More
ANO5 N64fs 58 100 58 1 0 0 0 – 0 0 – 0 Only More
AP5Z1 R138X 2 100 2 0 – 0 0 – 0 0 – 0 Only More
APC A1358V 2 100 2 3 33.3 1 0 – 0 6 50 3 Missing ClinVar
APC E152fs 5 100 5 1 100 1 6 50 3 0 – 0 More
APC Q1244X 2 100 2 0 – 0 0 – 0 0 – 0 Only More
APC R2714H 3 100 3 1 100 1 1 0 0 2 50 1 More
ASL R182X 6 100 6 5 80 4 0 – 0 2 100 2 More
ATM E3007X 1 100 1 0 – 0 0 – 0 9 0 0 Only More
ATM Q2729H 5 100 5 2 100 2 3 0 0 3 66.7 2 More
ATM S1455R 5 100 5 3 100 3 1 0 0 3 100 3 More
ATP7B L795F 15 100 15 18 72.2 13 0 – 0 10 70 7 More
BMPR1A R254C 3 100 3 1 0 0 0 – 0 6 66.7 4 Missing ClinVar
BRCA1 E638K 2 100 2 4 25 1 0 – 0 0 – 0 More
BRCA1 H1283R 1 100 1 0 – 0 0 – 0 7 71.4 5 Missing ClinVar
BRCA1 H239R 8 100 8 12 33.3 4 0 – 0 4 100 4 More
BRCA1 L668F 22 100 22 17 70.6 12 1 0 0 14 85.7 12 More
BRCA1 P897fs 12 100 12 4 100 4 0 – 0 18 22.2 4 More
BRCA1 S1139I 4 100 4 2 100 2 1 0 0 5 60 3 More
BRCA1 V1665M 11 100 11 13 46.2 6 7 0 0 17 70.6 12 Missing ClinVar
BRCA2 Q2561R 3 100 3 1 100 1 7 0 0 4 25 1 More
BRCA2 R1160K 2 100 2 1 0 0 4 0 0 2 0 0 Only More
BRCA2 R118H 6 100 6 16 18.8 3 4 0 0 5 60 3 More
BRCA2 R3007G 3 100 3 4 75 3 7 0 0 1 0 0
BRCA2 S683P 1 100 1 1 100 1 4 0 0 0 – 0
BRCA2 Y3035S 15 100 15 18 55.6 10 4 0 0 13 76.9 10 More
CACN A2D1 D1045A 3 100 3 2 100 2 31 3.2 1 0 – 0 More
CAPN3 W373R 4 100 4 3 100 3 3 0 0 4 100 4
CCM2 R19X 12 100 12 11 63.6 7 1 100 1 0 – 0 More
CDK4 R209C 8 100 8 5 60 3 0 – 0 7 85.7 6 More
CHRNA4 R495Q 1 100 1 2 50 1 0 – 0 0 – 0
COL4A4 G545A 22 100 22 21 76.2 16 0 – 0 12 91.7 11 More
COX4I2 R85W 2 100 2 3 66.7 2 0 – 0 1 100 1
DMD E2910V 16 100 16 12 58.3 7 1 100 1 13 69.2 9 More
EXT2 A202V 2 100 2 5 40 2 0 – 0 0 – 0
FAH R174X 8 100 8 12 41.7 5 1 100 1 5 100 5 More
FANCA L1339fs 4 100 4 0 – 0 0 – 0 2 100 2 More
FANCC R179X 4 100 4 0 – 0 0 – 0 0 – 0 Only More
FBN1 C2659X 2 100 2 2 50 1 2 0 0 2 50 1 More
FCN3 L117fs 27 100 27 15 80 12 0 – 0 4 100 4 More
FIG4 F254fs 3 100 3 0 – 0 0 – 0 4 75 3
FREM2 P187L 1 100 1 1 100 1 0 – 0 0 – 0
FTO V201I 3 100 3 2 50 1 0 – 0 0 – 0 More
GCDH G390R 4 100 4 12 33.3 4 1 100 1 4 100 4
HBB G84fs 6 100 6 0 – 0 0 – 0 16 18.8 3 More
HMBS H256Q 1 100 1 2 50 1 0 – 0 0 – 0
HNF1B V61G 13 100 13 16 50 8 2 0 0 7 85.7 6 More
HNRNPU R324G 2 100 2 2 100 2 0 – 0 13 15.4 2
HOGA1 P190L 8 100 8 12 58.3 7 2 100 2 4 100 4 More
KCNE1 R67H 10 100 10 17 35.3 6 1 100 1 8 62.5 5 More
KCNH2 D501N 12 100 12 15 53.3 8 0 – 0 12 75 9 More
KCNQ1 R397W 15 100 15 19 31.6 6 1 100 1 13 92.3 12 More
LDB3 A698T 4 100 4 6 66.7 4 0 – 0 5 80 4
LDLR D304E 5 100 5 3 66.7 2 4 0 0 13 7.7 1 More
LDLR D482G 1 100 1 4 25 1 7 0 0 1 100 1
LDLR D492H 3 66.7 2 1 0 0 0 – 0 3 0 0 Only More
LDLR D622G 1 100 1 1 100 1 7 0 0 2 50 1
LDLR F73C 1 100 1 1 100 1 7 0 0 0 – 0
LIPT1 S292X 5 100 5 1 100 1 1 100 1 3 33.3 1 More
LRRK2 R521G 3 100 3 20 10 2 0 – 0 1 0 0 More
MCCC1 M325R 6 100 6 3 66.7 2 0 – 0 5 60 3 More
MLH1 K461N 3 100 3 2 100 2 0 – 0 0 – 0 More
MLH1 S577L 3 100 3 1 0 0 0 – 0 5 80 4 Missing ClinVar
MLH1 V664del 2 100 2 0 – 0 0 – 0 0 – 0 Only More
MMACHC Y130C 6 100 6 4 100 4 1 100 1 2 100 2 More
MMP21 W401X 1 100 1 0 – 0 0 – 0 1 100 1
MSH2 A636V 1 100 1 2 50 1 0 – 0 5 0 0
MSH2 Q377X 2 100 2 9 0 0 0 – 0 0 – 0 Only More
MSH2 R171K 1 100 1 6 16.7 1 2 0 0 2 100 2 Missing ClinVar
MSH6 S564X 1 100 1 3 0 0 0 – 0 4 25 1
MSH6 T767I 4 100 4 9 33.3 3 1 100 1 3 33.3 1 More
MUTYH W174X 3 100 3 6 16.7 1 0 – 0 0 – 0 More
MYBPC3 S858N 10 100 10 10 50 5 1 0 0 9 88.9 8 More
MYH7 D778E 15 100 15 16 62.5 10 1 0 0 9 88.9 8 More
MYH7 I530V 2 100 2 4 25 1 5 0 0 3 100 3 Missing ClinVar
MYO7A R336C 1 100 1 0 – 0 0 – 0 0 – 0 Only More
MYO7A T165M 8 100 8 15 60 9 2 100 2 9 100 9 Missing Google, ClinVar
MYPN P1112L 18 100 18 9 88.9 8 1 100 1 8 87.5 7 More
MYPN Y20C 15 100 15 24 41.7 10 1 100 1 6 100 6 More
OCA2 A334T 1 100 1 0 – 0 0 – 0 12 0 0 Only More
OCA2 N489D 21 100 21 24 79.2 19 1 100 1 6 83.3 5 More
PAH F39del 58 100 58 8 100 8 0 – 0 20 90 18 More
PALB2 T226A 1 100 1 0 – 0 0 – 0 0 – 0 Only More
PMS2 E473K 1 100 1 7 14.3 1 0 – 0 3 33.3 1 More
PMS2 E661K 1 100 1 0 – 0 1 0 0 3 66.7 2 Missing ClinVar
PMS2 L729fs 15 100 15 0 – 0 0 – 0 0 – 0 Only More
PRODH A455S 6 100 6 7 71.4 5 1 100 1 2 100 2 More
PTCH1 G38A 1 100 1 6 0 0 0 – 0 0 – 0 Only More
PTEN C296X 3 100 3 2 100 2 0 – 0 0 – 0 More
RAD50 R138X 4 100 4 6 33.3 2 0 – 0 3 66.7 2 More
SETX G2169G 1 100 1 1 100 1 36 0 0 0 – 0
SHOX R147H 5 100 5 8 62.5 5 1 100 1 0 – 0
SLURP1 W15R 19 100 19 22 54.5 12 4 100 4 5 100 5 More
SMPD1 L180fs 1 100 1 0 – 0 0 – 0 4 25 1
SOS1 P340S 2 100 2 4 50 2 1 100 1 3 66.7 2
SURF1 D202H 15 100 15 5 40 2 0 – 0 0 – 0 More
TMC1 R389X 17 100 17 14 78.6 11 1 100 1 3 100 3 More
TMPRSS3 A306T 18 100 18 23 65.2 15 6 100 6 7 100 7 More
TP53 E343Q 2 100 2 1 100 1 3 0 0 0 – 0 More
TSC2 A84V 5 80 4 5 20 1 0 – 0 1 100 1 More
TTR E109K 6 100 6 9 55.6 5 0 – 0 0 – 0 More
TTR E74Q 5 80 4 8 25 2 0 – 0 3 100 3 More
WNK4 P556T 4 100 4 7 57.1 4 1 100 1 0 – 0
Total/average 866 98.5 814 706 57.6 377 194 45.1 36 467 68.8 309 15 76 9
Sensitivity per variant 100.0% 76.9% 22.2% 63.9%
Specificity per article 98.5% 57.6% 45.1% 68.8%