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Inside the Lab Bioinformatics, Genetics and epigenetics, Biochemistry and molecular biology, Profession, Regulation and standards, Training and education, Quality assurance and quality control, Omics

A Guiding Light for Sequencing

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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About the Author

Somak Roy and Alexis Carter

Somak Roy is Assistant Professor of Pathology at the University of Pittsburgh Medical Center, Working Group Chair and Member of the Association for Molecular Pathology, USA.
Alexis Carter is Physician Informaticist at Children’s Healthcare of Atlanta, Working Group Member, 2017 AMP Informatics Subdivision Chair, and Board Member of the Association for Molecular Pathology, USA.

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