Loci

Tandem repeat loci associated with Mendelian diseases. Full Dataset

Tags

Motif length–

Inheritance

2 loci


		CNBP	DM2	Myotonic dystrophy type 2	chr3:129172576-129172656	CAGG	AD
		DMPK	DM1	Myotonic dystrophy type 1	chr19:45770204-45770266	CAG	AD

2 rowsPer page

Downloads

	T2T-chm13	hg19	hg38
General a general-purpose extended bed file for filtering and annotating loci	.bed	.bed	.bed
TRGT for genotyping full allele sequences in PacBio HiFi reads	.bed	.bed	.bed
Atarva ⚠️ for genotyping full allele sequences in long-read data	.bed .bed.gz .bed.gz.tbi	.bed .bed.gz .bed.gz.tbi	.bed .bed.gz .bed.gz.tbi
LongTR ⚠️ for genotyping full allele sequences in long-read data	.bed	.bed	.bed
Straglr ⚠️ for genotyping allele sizes in long read-data	.bed	.bed	.bed
Stranger ⚠️ for annotating TRGT or ExpansionHunter allele sizes with pathologic implications.	.json	.json	.json

⚠️ Still under development, use with caution

Plots

High-level, visual overview of loci.

Pathogenic Size Range

Age of Onset