Table 1 The families who participated in this study and the unsampled sequencing depth of each family member.

From: SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing

Family

Number of embryos

PGT-M indication

Gene

DNA source

Mother depth

Father depth

Child depth

Maternal grandmother depth

Maternal grandfather depth

Paternal grandmother depth

Paternal grandfather depth

Resequencing performed

1

3

N/A

N/A

Tissue culture

8.9

8.8

8.9

N/A

N/A

N/A

N/A

 

2

2

N/A

N/A

Tissue culture

8.7

8.9

8.8

N/A

N/A

N/A

N/A

 

9

2

nonsyndromic hearing loss

GJB2

Whole blood

13.2

13.4

8.5

N/A

N/A

N/A

N/A

 

25

3

HNPCC

MLH1

Whole blood

22.2

13.2

N/A

4.9

4.8

N/A

N/A

 

26

3

RCAD

HNF1B

Whole blood

4.9

4.9

N/A

4.9

4.9

N/A

N/A

 

27

4

22q microduplication

N/A

Whole blood

4.8 (2.8)

4.8 (3.4)

N/A

4.9 (3.2)

N/A

N/A

N/A

V

29

2

t(4;9)(p16.3;q34.3)

N/A

Whole blood

4.8

4.9

N/A

4.8

4.8

N/A

N/A

 

31

3

Gaucher disease

GBA

Whole blood

4.9 (3.8)

4.9 (3.2)

N/A

4.9 (3.3)

N/A

4.9 (2.8)

N/A

V

33

3

Gorlin syndrome

PTCH1

Whole blood

13.8

22.3

N/A

N/A

N/A

4.8

N/A

 

42

3

Neurofibromatosis

NF1

Whole blood

4.8 (2.3)

4.8 (2.3)

4.8 (3.9)

N/A

N/A

N/A

N/A

V

45

3

Aicardi Goutieres syndrome

SAMHD1

Whole blood

4.9 (2.8)

4.9 (5.2)

4.9 (3.0)

N/A

N/A

N/A

N/A

V

47

1

ADPKD

PKD1

Whole blood

4.9 (3.1)

4.8 (1.9)

N/A

N/A

N/A

4.9 (1.5)

N/A

V

48

2

chr1q21.1 duplication

N/A

Whole blood

8.5

8.4

8.6

N/A

N/A

N/A

N/A

 

49

2

Aniridia

PAX6

Whole blood

8.4

8.6

N/A

N/A

8.6

N/A

N/A

 
  1. Parentheses indicate the sequencing depth for individuals who were sequenced a second time based on 1ng of input DNA. N/A, not applicable.
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