Article

Considerations for clinical read alignment and mutational profiling using next-generation sequencing

2012-09-20

Abstract excerpt

Next-generation sequencing technologies are increasingly being applied in clinical settings, however the data are characterized by a range of platform-specific artifacts making downstream analysis problematic and error- prone. One major application of NGS is in the profiling of clinically relevant mutations whereby sequences are aligned to a reference genome and potential mutations assessed and scored. Accurate se...

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Literature Corpus work: 2c9afd1b-d9ca-55f1-9f06-1e6f6e220bf2
DOI: 10.12688/f1000research.1-2.v2

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