RT Journal
A1 De Coster, Wouter
A1 Höijer, Ida
A1 Bruggeman, Inge
A1 D'Hert, Svenn
A1 Melin, Malin
A1 Ameur, Adam
A1 Rademakers, Rosa
T1 Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR
JF Genome Research 
JO Genome Research 
YR 2024 
FD November 01 
VO 34 
IS 11 
SP 2074 
OP 2080 
DO 10.1101/gr.279265.124 
UL http://genome.cshlp.org/content/34/11/2074.abstract 
AB The lack of population-scale databases hampers research and diagnostics for medically relevant tandem repeats and repeat expansions. We attempt to fill this gap using our pathSTR web tool, which leverages long-read sequencing of large cohorts to determine repeat length and sequence composition in a healthy population. The current version includes 1040 individuals of The 1000 Genomes Project cohort sequenced on the Oxford Nanopore Technologies PromethION. A comprehensive set of medically relevant tandem repeats has been genotyped using STRdust and LongTR to determine the tandem repeat length and sequence composition. PathSTR provides rich visualizations of this data set and the feature to upload one's data for comparison along the control cohort. We demonstrate the implementation of this application using data from targeted nanopore sequencing of a patient with myotonic dystrophy type 1. This resource will empower the genetics community to get a more complete overview of normal variation in tandem repeat length and sequence composition and, as such, enable a better assessment of rare tandem repeat alleles observed in patients.