Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications
Short tandem repeats (STRs) are a class of repetitive elements, composed of tandem arrays
of 1–6 base pair sequence motifs, that comprise a substantial fraction of the human genome …
of 1–6 base pair sequence motifs, that comprise a substantial fraction of the human genome …
Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR
W De Coster, I Hoijer, I Bruggeman, S D'Hert… - Genome …, 2024 - genome.cshlp.org
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 …
relevant tandem repeats and repeat expansions. We attempt to fill this gap using our …
Medically relevant tandem repeats in nanopore sequencing of control cohorts
W De Coster, I Hoijer, I Bruggeman, S D'Hert, M Melin… - medRxiv, 2024 - medrxiv.org
Research and diagnostics for medically relevant tandem repeats and repeat expansions are
hampered by the lack of population-scale databases. We attempt to fill this gap using our …
hampered by the lack of population-scale databases. We attempt to fill this gap using our …