Article

Medically relevant tandem repeats in nanopore sequencing of control cohorts

2024-03-14

Abstract excerpt

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 pathSTR web tool, which leverages long-read sequencing of large cohorts to determine repeat length and sequence composition in the general population. The current version includes 878 individuals of the 1000 Genomes Project cohort sequenc...

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Literature Corpus work: e570a065-186a-5aff-a487-5930e3c0eb85
DOI: 10.1101/2024.03.06.24303700

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