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Article

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

Journal of clinical pathology - 1 Dec 2017

Ng Isaac Ks, Ng Christopher, Low Jia Jin, Chiu Lily, Seah Elaine, Ng Chin Hin, Chng Wee-Joo, Yan Benedict, Ban Kenneth H K

Abstract excerpt

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 variant caller in detecting large indels in a targeted sequencing of AML samples. While we found that this...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28676493
DOI: 10.1136/jclinpath-2017-204440

Genes

ZRSR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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