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Table 6 Sanger validation results for sample_002

From: A comparison of BeadChip and WGS genotyping outputs using partial validation by sanger sequencing

rsID

Chromosome

Position (GRCh38)

BeadChip genotype

WGS genotype

Sanger genotype

rs12731384d

1

109711898

TG

GG

TT

rs1633365c

1

109711919

TC

TT

TC

rs58877308a

1

109712113

CG

GG

GG

rs138687644

1

109759369

GG

GG

G–

rs202018423b

1

109759339

CC

CC

CC

rs757293027

1

109759384

CC

CC

C–

rs760279355b

1

109759346

CC

CC

CC

rs767809812

1

109759359

DD

II

I–

rs79394341

1

109759361

GG

GG

G–

rs786205634a

2

85663647

DI

II

II

rs3832043d

2

233671807

II

DI

DD

rs144484152a

6

160246683

GG

AA

AA

rs149262397b

6

160246574

CC

CC

CC

rs316022a

6

160246568

GG

AA

AA

rs529525717b

6

160246473

GG

GG

GG

rs537568133a

6

160246590

TT

CC

CC

rs549969754b

6

160246607

CC

CC

CC

rs555024471

6

160246297

GG

GG

G–

rs563560445b

6

160246467

CC

CC

CC

rs563829592

6

160246443

GG

GG

G–

rs577352795

6

160246460

TT

TT

T–

rs757852385b

6

160246688

AA

AA

AA

rs759566284

6

160246458

GG

GG

G–

rs200896335

10

101010536

DD

II

NA

rs753420953

13

49792587

DD

DI

NA

rs397515367a

22

37973817

DD

II

II

  1. aconcordance between Sanger and WGS genotypes
  2. bconcordance between all three genotyping methods
  3. cconcordance between Sanger and BeadChip genotypes
  4. dabsence of concordance between any of the methods