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Table 1 Indel detection (bp) by diffferent methods with 2 × 300-bp amplicon sequencing reads

From: ScanIndel: a hybrid framework for indel detection via gapped alignment, split reads and de novo assembly

Data set 1

Gene

Mutation

Tissue

Mean coverage

PCR/CE

ScanIndel

GATK

Pindel

Scalpel

Platypus

FermiKit

Delly

1-1

CALR

DEL

BM

46,913

52

52

52

NC

NC

NC

NC

NC

1-2

EGFR

DEL

FFPE

25,821

18

18

18

NC

NC

18

NC

NC

1-3

KIT

DEL

FFPE

12,990

6

6

6

NC

NC

6

NC

NC

1-4

NPM1

INS

BM

21,387

4

4

4

4

NC

NC

NC

NC

1-5

FLT3

INS

BM

4768

21

21

21

21

NC

NC

NC

NC

1-6

FLT3

INS

BM

11,510

26

27

NC

27

NC

NC

NC

NC

1-7

FLT3

INS

BM

26,747

49

51

NC

51

NC

NC

NC

NC

1-8

FLT3

INS

BM

28,991

38

39

NC

39

NC

NC

NC

NC

1-9

FLT3

INS

BM

26,734

90

93

NC

93

NC

NC

93

NC

1-10

FLT3

INS

BM

16,152

75

78

NC

78

NC

NC

NC

NC

1-11

FLT3

INS

BM

3528

32

33

33

33

NC

NC

NC

NC

1-12

FLT3

INS

BM

3851

51

54

54

54

NC

NC

NC

NC

1-13

FLT3

INS

BM

21,403

23

24

24

24

NC

NC

NC

NC

1-14

FLT3

INS

BM

3070

45

48

48

48

NC

NC

NC

NC

1-15

FLT3

INS

BM

4506

33

36

36

36

NC

NC

NC

NC

1-16

FLT3

NEG

BM

4471

NC

NC

NC

NC

NC

NC

NC

NC

1-17

FLT3

NEG

BM

4321

NC

NC

NC

NC

NC

NC

NC

NC

1-18

FLT3

NEG

BM

6219

NC

NC

NC

NC

NC

NC

NC

NC

1-19

FLT3

NEG

BM

5259

NC

NC

NC

NC

NC

NC

NC

NC

1-20

FLT3

NEG

BM

4443

NC

NC

NC

NC

NC

NC

NC

NC

1-21

FLT3

NEG

BM

5236

NC

NC

NC

NC

NC

NC

NC

NC

1-22

FLT3

NEG

BM

4443

NC

NC

NC

NC

NC

NC

NC

NC

  1. BM bone marrow, CE capillary electrophoresis, DEL deletion, FFPE formalin-fixed paraffin-embedded, INS insertion, NC not called, NEG negative