Loci
Tandem repeat loci associated with Mendelian diseases. Full Dataset
Motif length–
3 loci
HOXA13 | HFG-I | Hand-foot-genital syndrome 1 | chr7:27199924-27199966 | AD | |||
HOXA13 | HFG-II | Hand-foot-genital syndrome 2 | chr7:27199825-27199861 | AD | |||
HOXA13 | HFG-III | Hand-foot-genital syndrome 3 | chr7:27199678-27199732 | AD |
3 rows
Downloads
T2T-chm13 | hg19 | hg38 | |
---|---|---|---|
General a general-purpose extended bed file for filtering and annotating loci | |||
TRGT for genotyping full allele sequences in PacBio HiFi reads | |||
Atarva ⚠️ for genotyping full allele sequences in long-read data | |||
LongTR ⚠️ for genotyping full allele sequences in long-read data | |||
Straglr ⚠️ for genotyping allele sizes in long read-data | |||
Stranger ⚠️ for annotating TRGT or ExpansionHunter allele sizes with pathologic implications. |
⚠️ Still under development, use with caution
Plots
High-level, visual overview of loci.