Thursday, December 14, 2017

Validation Guideline for Next Generation Sequencing Bioinformatics Pipelines is now available!

The validation guideline for Next Generation Sequencing (NGS) Bioinformatics Pipelines is now available through the Journal of Molecular Diagnostics.  This guideline was constructed by a panel of experts from the Association of Molecular Pathology, the College of American Pathologists, and the American Medical Informatics Association.  It is the third in a series of NGS guidelines published from working groups at the Association of Molecular Pathology

Guidelines published by the Journal of Molecular Diagnostics are always freely available.

This latest NGS guideline is a first foundational guideline for the most common types of variants in human DNA detected by NGS technology, specifically single nucleotide variants, insertions/deletions up to 21 base-pairs in length, and multi-nucleotide variants up to 21 bp in length.  Later guidelines are anticipated to address other types of variants which may require special pipeline algorithms (e.g., large deletions, large insertions, duplications, copy number variants, translocations, inversions, epigenetic changes) or which are performed on non-human genomes.

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