Evidence map›Paper›PMID 40225921›Full record

ArticleHuman mutation2024

Long-Read Sequencing Identified a

Xueping Qiu, Xin Jin, Jin Li, Yuanzhen Zhang, Jianhong Ma, Fang Zheng

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

6 authors.

Xueping QiuCenter for Gene Diagnosis & Department of Laboratory Medicine Zhongnan Hospital of Wuhan University, Wuhan 430071, China.ORCID 0000-0002-1742-0525
Xin JinCenter for Gene Diagnosis & Department of Laboratory Medicine Zhongnan Hospital of Wuhan University, Wuhan 430071, China.ORCID 0000-0002-6430-5116
Jin LiCenter for Gene Diagnosis & Department of Laboratory Medicine Zhongnan Hospital of Wuhan University, Wuhan 430071, China.ORCID 0000-0002-5041-8507
Yuanzhen ZhangHubei Clinical Research Center for Prenatal Diagnosis and Birth Health, Wuhan 430071, China.ORCID 0000-0003-4832-7902
Jianhong MaHubei Clinical Research Center for Prenatal Diagnosis and Birth Health, Wuhan 430071, China.
Fang ZhengCenter for Gene Diagnosis & Department of Laboratory Medicine Zhongnan Hospital of Wuhan University, Wuhan 430071, China.ORCID 0000-0002-2024-2424

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Whole exome sequencing (WES) has become an increasingly common technique for identifying the genetic cause of Mendelian genetic diseases. However, it may fail to detect the complex regions of the genome. Here, we investigated the genetic etiology of a pedigree with autosomal dominant polycystic kidney disease (ADPKD) using a combination of WES, multiplex ligation-dependent probe amplification (MLPA), Sanger sequencing, and long-read sequencing (LRS). Initially, WES of the proband revealed a heterozygous variant c.7391G>C in

Indexed as

Exome SequencingExonsGene ConversionPolycystic Kidney, Autosomal DominantTRPP Cation ChannelsAdultDNA Copy Number VariationsFemaleHeterozygoteHumansMaleMiddle AgedMultiplex Polymerase Chain ReactionPedigreeSequence DeletionTRPP Cation ChannelsADPKDgene conversionlong-read sequencingPKD1WES

Identifiers

PMID40225921
PMCPMC11919013

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.