Loci

Tandem repeat loci associated with Mendelian diseases. Full Dataset

Tags

Motif length–

Inheritance

3 loci


		DMD	DMD	Duchenne muscular dystrophy	chrX:31284557-31284605	TTC	XR
		NIPA1	ALS1	Amyotrophic lateral sclerosis	chr15:22786677-22786703	GCG	AD
		POLG	CPEO	Progressive external ophthalmoplegia, Parkinson's disease	chr15:89333588-89333629	GCT

3 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