A Guiding Light for Sequencing
New recommendations for NGS bioinformatics pipelines aim to standardize sequencing workflows to reduce variability between clinical laboratories
Somak Roy and Alexis Carter |
At a Glance
- Next generation sequencing (NGS) is being increasingly adopted, but variability between clinical laboratories remains high
- New guidelines from the Association for Molecular Pathology hope to improve and standardize the NGS bioinformatics pipeline
- The recommendations emphasize the crucial role of a properly trained and qualified molecular laboratory professional
- They also provide practical guidance for NGS design, development and operation
More than ever, pathologists and laboratory medicine professionals are turning to next generation sequencing (NGS) to provide patients with diagnostic and prognostic information. But not every laboratory performs sequencing and analysis the same way, and variability in clinical laboratory practice can lead to problems. To tackle this, the Association of Molecular Pathology (AMP) has released several sets of guidelines for sequencing and panel validation, culminating in a new set of consensus recommendations for NGS bioinformatics pipelines (1). With this latest release, the association hopes to provide guidance throughout the NGS workflow, so that patients in need of genetic analysis can receive the best possible care.
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