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Table 4 Hi-Q vs. Standard enzyme variant call comparison

From: Addressing health disparities in Hispanic breast cancer: accurate and inexpensive sequencing of BRCA1 and BRCA2

Sample

CHR

Location

IDS

REF

VAR

Standard

QUAL

HiQ

QUAL

Context

Rare coding indels

         

DL0099844

chr13

32906535

  

T

Artifact

10.3

No call

 

T5

DL0099806

chr13

32906547

  

T

Artifact

93.64

No call

 

T5

DL0099818

chr13

32906547

  

T

No call

 

Artifact

13

 

DL0099791

chr13

32906565

  

A

Artifact

622.5

No call

 

A6

DL0099802

chr13

32906565

  

A

Artifact

737.8

No call

  

DL0099818

chr13

32906565

  

A

Artifact

160.3

No call

  

DL0099828

chr13

32906565

  

A

Artifact

793.8

No call

  

DL0099833

chr13

32906565

  

A

Artifact

383.3

No call

  

DL0099840

chr13

32906565

  

A

Artefact

744.6

No call

  

DL0099874

chr13

32906565

  

A

Artefact

458.6

No call

  

DL0099818

chr13

32906576

  

A

Artefact

158.9

No call

 

A5

DL0099879

chr13

32906576

  

A

Artefact

161.1

Artifact

293.2

 

DL0099824

chr13

32906576

  

A

No call

 

Artifact

373.7

 

DL0099842

chr13

32906576

  

A

No call

 

Artifact

212.6

 

DL0099846

chr13

32906576

  

A

No call

 

Artifact

325.6

 

DL0099851

chr13

32906576

  

A

No call

 

Artifact

288.0

 

DL0099832

chr13

32906602

  

A

Artifact

101.0

No call

 

A7

DL0099854

chr13

32906602

  

A

Artifact

80.27

No call

  

DL0099812

chr13

32906609

  

AAT

Artifact

11.8

No call

 

A7T4

DL0099867

chr13

32906609

  

AT

Artifact

19.39

No call

  

DL0099873

chr13

32906609

  

AAT

Artifact

20.66

No call

  

DL0099879

chr13

32906609

  

AT

Artifact

45.22

No call

  

DL0099806

chr13

32906647

  

A

Artifact

32.02

No call

 

A5

DL0099841

chr13

32906647

  

A

Artifact

33.75

No call

  

DL0099808

chr13

32913668

  

A

Artifact

11.78

No call

 

A4

DL0099791

chr13

32914270

 

T

 

Valid

627

Valid

583.7

agTg

DL0099847

chr13

32929161

  

A

Artifact

13.91

No call

 

A6

DL0099795

chr13

32929287

  

A

Artifact

22.35

No call

 

A4

DL0099802

chr13

32929287

  

A

Artifact

12.56

No call

  

DL0099804

chr13

32929287

  

A

Artifact

14.27

No call

  

DL0099816

chr13

32929287

  

A

Artifact

16.41

No call

  

DL0099821

chr13

32929287

  

A

Artifact

10.65

No call

  

DL0099831

chr13

32929287

  

A

Artifact

10.4

No call

  

DL0099839

chr13

32929287

  

A

Artifact

15.97

No call

  

DL0099844

chr13

32929287

  

A

Artifact

16.08

No call

  

DL0099880

chr13

32929287

  

A

Artifact

20.42

No call

  

DL0099874

chr17

41215952

rs80357710

CA

 

Valid

893

Valid

794.1

CA4

DL0099847

chr17

41256244

  

T

Artifact

13.14

No call

 

T4

DL0099801

chr17

41276044

rs80359877

CAGATGGGACA

 

Valid

856

Valid

611.1

 

DL0099855

chr17

41276044

  

CT

Valid

483

Valid

608.1

 

Rare SNVs

          

DL0099801

chr13

32906446

rs28897705

T

G

Valid

348

Valid

469.2

 

DL0099870

chr13

32906571

rs55939572

A

C

No call

 

Artifact

41.04

 

DL0099797

chr13

32912414

rs80358638

G

T

Valid

316

Valid

343.4

 

DL0099879

chr13

32912553

cosmic:69844,esp,rs80358656

C

T

Valid

343

Valid

405.2

 

DL0099858

chr13

32972695

rs80358387

A

G

Valid

520.1

Valid

608.6

 

DL0099877

chr17

41197756

rs80357323

A

C

Valid

522.5

Valid

675.3

 

DL0099816

chr17

41201181

rs80357069

C

T

Valid

512

Valid

799.2

 

DL0099816

chr17

41201185

rs80357065

A

T

Valid

519

Valid

805.8

 

DL0099879

chr17

41222976

rs80356968

A

G

Valid

560.3

Valid

495.7

 

DL0099858

chr17

41243948

rs56214134

C

A

Valid

758.5

Valid

698.1

 

DL0099836

chr17

41245071

rs28897683

G

T

Valid

325.6

Valid

248.3

 

DL0099801

chr17

41246037

rs56272539

C

T

Valid

835.4

Valid

998.0

 

DL0099838

chr17

41267755

 

T

A

Valid

731.1

Valid

910.6

 
  1. A set of 91 samples were amplified and the resulting library run on either the standard sequencing enzyme or Hi-Q. Variants were called by TVC4.0 with recommended settings optimized for Hi-Q enzyme (see Methods). Lines in bold were manually validated
  2. REF reference base, VAR variant base. QUAL quality score of variant