Improved NGS variant calling tool for the PRSS1-PRSS2 locus
- PMID: 35288441
- DOI: 10.1136/gutjnl-2022-327203
Improved NGS variant calling tool for the PRSS1-PRSS2 locus
Keywords: genetic polymorphisms; genetic testing; pancreatic disease; pancreatitis; polymorphic variation.
Conflict of interest statement
Competing interests: None declared.
Comment on
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Next generation sequencing pitfalls in diagnosing trypsinogen (PRSS1) mutations in chronic pancreatitis.Gut. 2020 Sep 28:gutjnl-2020-322864. doi: 10.1136/gutjnl-2020-322864. Online ahead of print. Gut. 2020. PMID: 32989020 No abstract available.
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NGS mismapping confounds the clinical interpretation of the PRSS1 p.Ala16Val (c.47C>T) variant in chronic pancreatitis.Gut. 2022 Apr;71(4):841-842. doi: 10.1136/gutjnl-2021-324943. Epub 2021 May 7. Gut. 2022. PMID: 33963039 No abstract available.
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