Evidence map›Paper›PMID 31240878›Full record

GuidelineAnnals of laboratory medicine2019

Korean Society for Genetic Diagnostics Guidelines for Validation of Next-Generation Sequencing-Based Somatic Variant Detection in Hematologic Malignancies.

Heyjin Kim, Jae Won Yun, Seung Tae Lee, Hee Jin Kim, Sun Hee Kim, Jong Won Kim, Korean Society for Genetic Diagnostics Clinical Guidelines Committee

Abstract readGuideline
In one paragraph

Guideline in Annals of laboratory medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed.

  1. Article
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  6. Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Heyjin Kim *Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.ORCID https://orcid.org/0000-0002-2213-2579
Jae Won Yun *Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.ORCID https://orcid.org/0000-0002-9029-8036
Seung Tae LeeDepartment of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.ORCID https://orcid.org/0000-0003-1047-1415
Hee Jin KimDepartment of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.ORCID https://orcid.org/0000-0003-3741-4613
Sun Hee KimDepartment of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.ORCID https://orcid.org/0000-0002-7542-5551
Jong Won KimDepartment of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. kimjw@skku.edu.ORCID https://orcid.org/0000-0002-0708-9242
Korean Society for Genetic Diagnostics Clinical Guidelines Committee

Funding

Korean Society for Genetic Diagnostics
6 · The paper itself

Abstract

Next-generation sequencing (NGS) is currently used in the clinical setting for targeted therapies and diagnosis of hematologic malignancies. Accurate detection of somatic variants is challenging because of tumor purity, heterogeneity, and the complexity of genetic alterations, with various issues ranging from high detection design to test implementation. This article presents guidelines developed through consensus among a panel of experts from the Korean Society for Genetic Diagnostics. They are based on experiences with the validation processes of NGS-based somatic panels for hematologic malignancies, with reference to previous international recommendations. These guidelines describe basic parameters with emphasis on the design of a validation protocol for NGS-based somatic panels to be used in practice. In addition, they suggest thresholds of key metrics, including minimum coverage, mean coverage with uniformity index, and minimum variant allele frequency, for the initial diagnosis of hematologic malignancies.

Indexed as

High-Throughput Nucleotide SequencingGene FrequencyHematologic NeoplasmsHumansLimit of DetectionMutationPolymorphism, Single NucleotideQuality ControlReference ValuesReproducibility of ResultsValidation Studies as TopicGuidelinesHematologic malignanciesNext-generation sequencingPanelsSomatic variantValidation

Identifiers

PMID31240878
PMCPMC6660343

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.