Article

MOLGENIS VIP: an open-source and modular pipeline for high-throughput and integrated DNA variant analysis

2024-04-15

Abstract excerpt

In silico variant interpretation pipelines have become an integral part of genetics research and genome diagnostics. However, challenges remain for automated variant interpretation and candidate shortlisting. Their reliability is affected by variability in input data caused due the use of differing sequencing platforms, erroneous nomenclature and changing experimental conditions. Similarly, differences in predicti...

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Literature Corpus work: 001cd1c2-235c-5a9e-81db-1f2710de39f4
DOI: 10.1101/2024.04.11.24305656

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