pathSTR

HTML reports generated by pathSTR for repeat-expansion–associated disorders.

Data source and display

All pathSTR reports linked below were generated from T2T-CHM13-aligned CRAM files for 1,019 individuals in the 1000 Genomes Oxford Nanopore cohort. Genotyping was performed directly in T2T-CHM13 coordinates. Reports display the longest qualifying allele per sample, except for COMP and RFC1, for which all qualifying alleles are displayed. Reports marked with correspond to loci with one or more single-read-supported calls retained in the -s 1 analysis.

Reports

Select a report or filter the list by gene or disease abbreviation.

69 reports
ABCD3_OPDM OPDM
AFF2_FRAXE† — single-read-supported call retained in the -s 1 analysis FRAXE
AFF3_FRA2A FRA2A
ARX_EIEE1† — single-read-supported call retained in the -s 1 analysis EIEE1
ARX_PRTS† — single-read-supported call retained in the -s 1 analysis PRTS
AR_SBMA† — single-read-supported call retained in the -s 1 analysis SBMA
ATN1_DRPLA DRPLA
ATXN10_SCA10 SCA10
ATXN1_SCA1 SCA1
ATXN2_SCA2 SCA2
ATXN3_SCA3 SCA3
ATXN7_SCA7 SCA7
ATXN8OS_SCA8 SCA8
BEAN1_SCA31 SCA31
C9orf72_FTDALS1 FTD/ALS
CACNA1A_SCA6 SCA6
CBL_JBS JBS
CNBP_DM2 DM2
COMP_EDM1-PSACH EDM1/PSACH
CSTB_EPM1 EPM1
DAB1_SCA37 SCA37
DIP2B_FRA12A FRA12A
DMD_DMD† — single-read-supported call retained in the -s 1 analysis DMD
DMPK_DM1 DM1
EIF4A3_RCPS RCPS
FGF14_SCA27B SCA27B
FMR1_FXS† — single-read-supported call retained in the -s 1 analysis FXS
FOXL2_BPES BPES
FXN_FRDA FRDA
GIPC1_OPDM2 OPDM2
GLS_GDPAG GDPAG
HOXA13-III_HFG HFG III
HOXA13-II_HFG HFG II
HOXA13-I_HFG HFG I
HOXD13_SD5 SD5
HTT_HD HD
JPH3_HDL2 HDL2
LRP12_OPDM1 OPDM1
MARCHF6_FAME3 FAME3
NIPA1_ALS1 ALS1
NOP56_SCA36 SCA36
NOTCH2NLC_NIID NIID
NUTM2B-AS1_OPML1 OPML1
PABPN1_OPMD OPMD
PHOX2B_CCHS CCHS
POLG_CPEO CPEO
PPP2R2B_SCA12 SCA12
PRDM12_HSAN-VIII HSAN-VIII
PRNP_CJD CJD
RAPGEF2_FAME7 FAME7
RFC1_CANVAS CANVAS
RFC1_CANVAS_6mer CANVAS
RILPL1_OPDM4 OPDM4
RUNX2_CCD CCD
SAMD12_FAME1 FAME1
SOX3_XLMR† — single-read-supported call retained in the -s 1 analysis XLMR
STARD7_FAME2 FAME2
TBP_SCA17 SCA17
TBX1_TOF TOF
TCF4_FECD3 FECD3
THAP11_SCA SCA
TNRC6A_FAME6 FAME6
VWA1_HMNR7 HMNR7
XYLT1_DBQD2 DBQD2
YEATS2_FAME4 FAME4
ZFHX3_SCA4 SCA4
ZIC2_HPE5 HPE5
ZIC3_VACTERLX† — single-read-supported call retained in the -s 1 analysis VACTERLX
ZNF713_FRA7A FRA7A

Reference

De Coster W, et al. Genome Research. DOI: 10.1101/gr.279265.124