Skip to main content

Table 2 Parental haplotypes phasing data

From: Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing

Family

Sample

Gene

Phase block across target region

Phasing block size(kb)

No. of SNPs across the block

F01

mat

HBB

chr11:4249489-6238960

1989.5

2367

 

pat

HBB

chr11:4269280-5761797

1492.5

1469

F02

mat

HBB

chr11:4366798-6246383

1879.6

1803

 

pat

HBB

chr11:4366798-6237565

1870.8

1655

F03

mat

HBB

chr11:4249238-5884595

1635.4

1716

 

pat

HBB

chr11:4346064-6121271

1775.2

1972

F04

mat

HBB

chr11:4587676-6243982

1656.3

2308

 

pat

HBB

chr11:4905140-6216304

1311.2

1644

F05

mat

HBB

chr11:5192535-5900085

707.6

955

 

pat

HBB

chr11:4249095-5450493

1201.4

1359

F06

mat

HBB

chr11:4852009-5555972

704.0

741

 

pat

HBB

chr11:5196669-6082903

886.2

1541

F07

mat

HBB

chr11:4697080-6239344

1542.3

1810

 

pat

HBB

chr11:4306665-6246051

1939.4

2043

F08

mat

HBB

chr11:4936613-6116142

1179.5

1544

 

pat

HBB

chr11:4249126-5771915

1522.8

1369

F09

mat

HBB

chr11:4436676-6239344

1802.7

1681

 

pat

HBB

chr11:4249163-6090372

1841.2

2247

F10

mat

HBB

chr11:4249271-6237565

1988.3

1666

 

pat

HBB

chr11:4249031-6037803

1788.8

1733

F11

mat

HBB

chr11:4345701-5647166

1301.5

1202

 

pat

HBB

chr11:4389404-5719251

1329.8

1450

F12

mat

HBB

chr11:4249095-6239344

1990.2

2301

 

pat

HBB

chr11:4387760-6121428

1733.7

2418

F13

mat

HBA

chr16:60185-679412

619.2

284

 

pat

HBA

chr16:60185-1225628

1165.4

937

F14

mat

HBA

chr16:186950-1216997

1030.0

606

 

pat

HBA

chr16:132246-612607

480.4

251

F15

mat

HBA

chr16:94080-1225184

1131.1

899

 

pat

HBA

chr16:74039-1197612

1123.6

687

F16

mat

HBA

chr16:79811-1223722

1143.9

883

 

pat

HBA

chr16:60185-460830

400.6

339

F17

mat

HBA

chr16:60185-1192620

1132.4

1045

 

pat

HBA

chr16:60291-1225184

1164.9

1010

F18

mat

MMACHC

chr1: 44966837-46952164

1985.3

1599

 

pat

MMACHC

chr1: 44972309-46972958

2000.6

926

F19

mat

MMACHC

chr1: 45513754-46973454

1459.7

440

 

pat

MMACHC

chr1: 44979498-46975877

1996.3

831

F20

mat

MMACHC

chr1: 45767431-46206444

439.0

119

 

pat

MMACHC

chr1: 45386861-46503217

1116.3

247

F21

mat

MMACHC

chr1: 45765523-46975294

1209.8

457

 

pat

MMACHC

chr1:44967323-46975877

2008.6

812

F22

mat

MMACHC

chr1:45762749-46722939

960.2

445

 

pat

MMACHC

chr1:45701916-46097939

396.0

161

F23

mat

MMACHC

chr1:45738336-46975450

1237.1

729

 

pat

MMACHC

chr1:44967431-46975877

2008.4

1228

F24

mat

MMACHC

chr1:45947353-46095125

147.8

27

 

pat

MMACHC

chr1:45775550-46605728

830.2

609

F25

mat

MMACHC

chr1:45765523-46053981

288.5

156

 

pat

MMACHC

chr1:45765523-45982693

217.2

41

F26

mat

MMACHC

chr1:45767431-46975877

1208.4

691

 

pat

MMACHC

chr1:45762749-46975877

1213.1

684

F27

mat

MMACHC

chr1:45683746-46645681

961.9

572

 

pat

MMACHC

chr1:45962137-45974407

12.3

3

F28

mat

MMACHC

chr1:44967323-45974520

1007.2

595

 

pat

MMACHC

chr1:44967323-46691245

1723.9

1149

F29

mat

MMACHC

chr1:45640368-46975877

1335.5

599

 

pat

MMACHC

chr1:44973546-46975877

2002.3

1185

F30

mat

MMACHC

chr1:44967825-46975877

2008.1

1082

 

pat

MMACHC

chr1:45683419-46924563

1241.1

685

F31

mat

PAH

chr12:103214192-104013534

799.3

301

 

pat

PAH

chr12:102252463-104225303

1972.8

1299

F32

mat

PAH

chr12:102241500-104309559

2068.1

1300

 

pat

PAH

chr12:102240964-104261374

2020.4

1094

F33

mat

PAH

chr12:102240964-103276441

1035.5

555

 

pat

PAH

chr12:102241500-104173880

1932.4

1048

F34

mat

PAH

chr12:102618568-104309712

1691.1

1095

 

pat

PAH

chr12:102728895-104272113

1543.2

696

F35

mat

PAH

chr12:102894838-103267467

372.6

136

 

pat

PAH

chr12:103075411-104309383

1234.0

1069

F36

mat

PAH

chr12:102248565-104275721

2027.2

1189

 

pat

PAH

chr12:103105959-103274915

169.0

106

F37

mat

PAH

chr12:102321986-103791220

1469.2

984

 

pat

PAH

chr12:102710699-104300441

1589.7

1062

F38

mat

PAH

chr12:102240964-103623855

1382.9

619

 

pat

PAH

chr12:102240964-104304705

2063.7

1246

F39

mat

PKHD1

chr6:50968947-52950047

1981.1

1347

 

pat

PKHD1

chr6:50982112-52905592

1923.5

985

F40

mat

GJB2

chr13:20687773-20802900

115.1

93

 

pat

GJB2

chr13:20676993-21122165

445.2

279