Evidence map›Paper›PMID 37387500›Full record

ArticleAnnals of laboratory medicine2023

Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome.

Heerah Lee, Jung Ae Lee, Hyesu Lee, Jee-Soo Lee, Jung Min Ko, Man Jin Kim, Moon-Woo Seong

Abstract readCase ReportsLetter
In one paragraph

Article in Annals of laboratory medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

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

7 authors.

Heerah LeeDepartment of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.ORCID 0000-0002-9830-4859
Jung Ae LeeDepartment of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.ORCID 0000-0001-7286-3890
Hyesu LeeDepartment of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.ORCID 0000-0002-7373-6700
Jee-Soo LeeDepartment of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.ORCID 0000-0002-6633-4631
Jung Min KoDepartment of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.ORCID 0000-0002-0407-7828
Man Jin KimDepartment of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.ORCID 0000-0002-9345-6976
Moon-Woo SeongDepartment of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.ORCID 0000-0003-2954-3677

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

High-Throughput Nucleotide SequencingPseudogenesGene FrequencyHumansShwachman-Diamond Syndrome

Identifiers

PMID37387500
PMCPMC10345175

What OpenQuestion holds

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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.