Article

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

2021-10-01

Abstract excerpt

<h4>ABSTRACT</h4> Short-tandem repeat (STR) expansions are an important class of pathogenic genetic variants. Over forty neurological and neuromuscular diseases are caused by STR expansions, with 37 different genes implicated to date. Here we describe the use of programmable targeted long-read sequencing with Oxford Nanopore’s ReadUntil function for parallel genotyping of all known neuropathogenic STRs in a single...

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Literature Corpus work: 0ad0cb03-9d02-59de-92af-720890e84283
DOI: 10.1101/2021.09.27.21263187

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