Evidence map›Paper›PMID 32128068›Full record

ArticleComputational and structural biotechnology journal2020

Identification of rare variants in novel candidate genes in pulmonary atresia patients by next generation sequencing.

Xin Shi, Li Zhang, Kai Bai, Huilin Xie, Tieliu Shi, Ruilin Zhang, Qihua Fu, Sun Chen, Yanan Lu, Yu Yu and 1 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Computational and structural biotechnology journal, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
1.5field-weighted citation impact, top 18% of its field
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

11 citing papers in PubMed, 19 citations in OpenAlex.

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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

11 authors at 3 institutions in 1 country.

Xin ShiDepartment of Pediatric Cardiovascular, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China.
Li ZhangKey Laboratory of Advanced Theory and Application in Statistics and Data Science, East China Normal University, Ministry of Education, Shanghai, China.
Kai BaiDepartment of Pediatric Cardiovascular, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China.
Huilin XieDepartment of Pediatric Cardiovascular, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China.
Tieliu ShiThe Center for Bioinformatics and Computational Biology, Shanghai Key Laboratory of Regulatory Biology, the Institute of Biomedical Sciences and School of Life Sciences, East China Normal University, Shanghai, China.
Ruilin ZhangSchool of Life Sciences, Fudan University, Shanghai 200438, China.
Qihua FuMedical Laboratory, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China.
Sun ChenDepartment of Pediatric Cardiovascular, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China.
Yanan LuDepartment of Pediatric Cardiovascular, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China.
Yu YuDepartment of Pediatric Cardiovascular, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China.
Kun SunDepartment of Pediatric Cardiovascular, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China.
Shanghai Jiao Tong University · CNEast China Normal University · CNFudan University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pulmonary atresia (PA) is a rare congenital heart defect (CHD) with complex manifestations and a high mortality rate. Since the genetic determinants in the pathogenesis of PA remain elusive, a thorough identification of the genetic factors through whole exome sequencing (WES) will provide novel insights into underlying mechanisms of PA. We performed WES data from PA/VSD (n = 60), PA/IVS (n = 20), TOF/PA (n = 20) and 100 healthy controls. Rare variants and novel genes were identified using variant-based association and gene-based burden analysis. Then we explored the expression pattern of our candidate genes in endothelium cell lines, pulmonary artery tissues, and embryonic hearts. 56 rare damage variants of 7 novel candidate genes (

Indexed as

ACMG, American College of Medical GeneticsCHD, congenital heart defectCongenital heart defectCTD, Conotruncal defectExAC, Exome Aggregation ConsortiumFDR, False discovery ratesGene mutationsGEO, Gene Expression OmnibusgnomAD, Genome Aggregation DatabaseGSEA, gene set enrichment analysisHPAECs, Human Pulmonary Artery Endothelial CellsLOF, loss-of-functionMAF, minor allele frequencyPA/IVS, Pulmonary atresia with intact ventricular septumPA, Pulmonary atresiaPA/VSD, Pulmonary atresia with ventricular septal defectPPI, protein–protein interactionsPulmonary atresiaRare variantsRT-qPCR, Reverse Transcription Quantitative PCRRV, right ventricleSNP, single nucleotide polymorphismSTRING, Search Tool for the Retrieval of Interacting GenesTOF, tetralogy of FallotWES, whole exome sequencingWhole-exome sequencing

Identifiers

PMID32128068
PMCPMC7044470
OpenAlexW3005768343

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.