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Table 1 Known disease loci used for simulation

From: Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences

Chromosome

Start

End

Gene

Motif

chr2

176,093,057

176,093,099

HOXD13

GGC

chr3

63,912,685

63,912,715

ATXN7

CAG

chr4

3,074,876

3,074,933

HTT

CAG

chr5

146,878,728

146,878,758

PPP2R2B

CTG

chr6

16,327,635

16,327,722

ATXN1

CTG

chr7

27,199,924

27,199,966

HOXA13

CGC

chr9

69,037,286

69,037,304

FXN

GAA

chr11

119,206,289

119,206,322

CBL

CGG

chr12

111,598,950

111,599,019

ATXN2

CTG

chr13

70,139,383

70,139,428

ATXN8

CTG

chr14

92,071,010

92,071,034

ATXN3

CTG

chr16

87,604,287

87,604,329

JPH3

CTG

chr19

45,770,204

45,770,264

DMPK

CAG

chr20

2,652,733

2,652,775

NOP56

GGCCTG

chr21

43,776,443

43,776,479

CSTB

CGCGGGGCGGGG

chr22

45,795,354

45,795,424

ATXN10

ATTCT

chrX

147,912,050

147,912,110

FMR1

CGG