Article

Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangements

2023-12-17

Abstract excerpt

<h4>Background: </h4> Clinical genetic laboratories often require comprehensive analysis of chromosomal rearrangements/structural variants (SVs) which can range from gross chromosomal events, such as translocations and inversions, to supernumerary ring/marker chromosomes, and small deletions or duplications. To fully understand the complexity of a specific event and its associated clinical consequences, it is impe...

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Literature Corpus work: 9851799b-f73a-5117-b1cc-f82270d70040
DOI: 10.1101/2023.12.15.23299892

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