Identifying large indels in targeted next generation sequencing assays for myeloid neoplasms: a cautionary tale of the ZRSR1 pseudogene

Targeted next generation sequencing platforms have been increasingly utilised for identification of novel mutations in myeloid neoplasms, such as acute myeloid leukaemia (AML), and hold great promise for use in routine clinical diagnostics. In this study, we evaluated the utility of an open source v...

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Veröffentlicht in:Journal of clinical pathology 2017-12, Vol.70 (12), p.1069-1073
Hauptverfasser: Ng, Isaac KS, Ng, Christopher, Low, Jia Jin, Chiu, Lily, Seah, Elaine, Ng, Chin Hin, Chng, Wee-Joo, Yan, Benedict, Ban, Kenneth H K
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Sprache:eng
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