Table 1 NIPT for paternal inheritance of rs713040.

From: A novel high-throughput molecular counting method with single base-pair resolution enables accurate single-gene NIPT

Sample

Fetal Fraction

VAF

Num. Mol.

LR

NIPT

Neonate GT

35A

0.088

0.004

1159

1.5e + 09

0/0

0/0

07B

0.272

0.009

482

5.9e + 15

0/0

0/0

38C

0.081

0.033

572

2.1eā€‰āˆ’ā€‰09

0/1

0/1

49E

0.174

0.961

436

2.0eā€‰āˆ’ā€‰08

0/1

0/1

38B

0.228

0.998

871

4.3e + 27

1/1

1/1

52E

0.128

0.998

248

4.7e + 04

1/1

1/1

17D

0.172

0.998

585

1.6e + 13

1/1

1/1

18C

0.123

0.998

636

3.6e + 09

1/1

1/1

52F

0.213

0.998

447

5.2e + 13

1/1

1/1

04B

0.045

0.998

2742

7.1e + 09

1/1

1/1

36C

0.144

0.998

755

1.4e + 14

1/1

1/1

02A

0.289

0.998

1497

5.1e + 64

1/1

1/1

40B

0.237

0.998

988

2.7e + 33

1/1

1/1

37A

0.209

1.000

2900

1.4e + 84

1/1

1/1

  1. Assays were performed to measure the fetal fraction, variant allele fraction, and number of input HBB DNA molecules. The likelihood ratio of sequencing error vs paternal inheritance was then used to infer the fetal genotype. The actual genotype of the fetus is confirmed by genotyping of the newborn.