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B1MG D3.1 - Quality metrics for sequencing

Authors: Gut, Ivo; Estelles, Lucia; Cuppen, Edwin; Wirta, Valtteri; Hovig, Eivind; Volkert, Pim; Matthijs, Gert;

B1MG D3.1 - Quality metrics for sequencing

Abstract

Next Generation Sequencing (NGS) is becoming increasingly used in clinical settings for the genomic analysis of germline and cancer samples. Hence, there is a need to establish guidelines that cover the minimum quality requirements for the generation of whole genome sequencing (WGS) and whole exome sequencing (WES) data. NGS pipelines are comprised of several elements, all of which contribute to the end quality of the result, from the reception of the samples to delivery of the outcomes. For this reason, quality control (QC) steps should be incorporated into the workflow to ensure that the data is fit for use, and its usage poses no risk to the patient.

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Keywords

Standards, Best practices, B1MG, Quality metrics for sequencing, 1+MG, NGS, Sequencing, Metrics, 1 Million Genomes Initiative, Beyond 1 Million Genomes, ELIXIR

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
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Cancer Research