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Table 6 Distribution of GSA (reference (Ref) to alternate (Alt) allele) SNV assays present in the 1KG Phase 3 data versus number of assays passing QC

From: Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets

 

Ref\Alt

Purine

Purine

Pyrimidine

Pyrimidine

A

G

C

T

Purine

A

–

101,994/111,493 (91%)

25,107/28,214 (89%)

1368/2065 (66%)

Purine

G

136,350/149,635 (91%)

–

2404/3280 (73%)

29,629/33,115 (89%)

Pyrimidine

C

30,130/33,566 (90%)

2339/3216 (73%)

–

136,392/149,801 (91%)

Pyrimidine

T

1362/2074 (66%)

24,983/28,133 (89%)

102,172/112,009 (91%)

–