Evidence map›Paper›PMID 29974360›Full record

ArticleMolecular diagnosis & therapy2018

Validation Strategy for Ultrasensitive Mutation Detection.

Marija Debeljak, Michael Noë, Stacy L Riel, Lisa M Haley, Alexis L Norris, Derek A Anderson, Emily M Adams, Masaya Suenaga, Katie F Beierl, Ming-Tseh Lin and 3 more

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Article in Molecular diagnosis & therapy, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

13 authors.

Marija DebeljakDepartment of Pathology, Johns Hopkins University, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Michael NoëDepartment of Pathology, Johns Hopkins University, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Stacy L RielDepartment of Pathology, Johns Hopkins University, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Lisa M HaleyDepartment of Pathology, Johns Hopkins University, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Alexis L NorrisDepartment of Pathology, Johns Hopkins University, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Derek A AndersonDepartment of Pathology, Johns Hopkins University, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Emily M AdamsDepartment of Pathology, Johns Hopkins University, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Masaya SuenagaDepartment of Pathology, Johns Hopkins University, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Katie F BeierlDepartment of Pathology, Johns Hopkins University, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Ming-Tseh LinDepartment of Pathology, Johns Hopkins University, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Michael G GogginsDepartment of Pathology, Johns Hopkins University, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Christopher D GockeDepartment of Pathology, Johns Hopkins University, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
James R EshlemanDepartment of Pathology, Johns Hopkins University, Johns Hopkins Medical Institutions, Baltimore, MD, USA. jeshlem@jhmi.edu.ORCID http://orcid.org/0000-0002-9274-8459

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundUltrasensitive detection of low-abundance DNA point mutations is a challenging molecular biology problem, because nearly identical mutant and wild-type molecules exhibit crosstalk. Reliable ultrasensitive point mutation detection will facilitate early detection of cancer and therapeutic monitoring of cancer patients.

objectiveThe objective of this study was to develop a method to correct errors in low-level cell line mixes. MATERIALS AND

methodsWe tested sample mixes with digital-droplet PCR (ddPCR) and next-generation sequencing.

resultsWe introduced two corrections: baseline variant allele frequency (VAF) in the parental cell line was used to correct for copy number variation; and haplotype counting was used to correct errors in cell counting and pipetting. We found ddPCR to have better correlation for detecting low-level mutations without applying any correction (R

conclusionsThe VAF correction was found to be more significant than haplotype correction. It is imperative that various technologies be evaluated against each other and laboratories be provided with defined quality control samples for proficiency testing.

Indexed as

DNA Mutational AnalysisMutationHaplotypesHLA-A AntigensHumansPolymerase Chain ReactionPolymorphism, Single NucleotideReproducibility of ResultsSensitivity and SpecificityHLA-A Antigens

Identifiers

PMID29974360

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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.