Evidence map›Paper›PMID 31965297›Full record

Trial reportHuman genetics2020

Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China.

Huijun Wang, Yulan Lu, Xinran Dong, Guoping Lu, Guoqiang Cheng, Yanyan Qian, Qi Ni, Ping Zhang, Lin Yang, Bingbing Wu and 1 more

Abstract readClinical TrialMulticenter Study
PubMed Publisher
In one paragraph

Trial report in Human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed, 1 pooled it
8.3field-weighted citation impact, top 1% 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

38 citing papers in PubMed, 1 synthesis or guideline pooled it, 71 citations in OpenAlex.

  1. Pooled it
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  8. Observational
  9. Review
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  11. Article
  12. Article
  13. Diagnostic genomic sequencing in critically ill children.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023
    Article
  14. [Clinical practice of whole-genome sequencing in the rapid diagnosis of critically ill neonates].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023
    Article
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  20. A novelMolecular medicine reports · 2022
    Article
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 1 institution in 1 country.

Huijun WangCenter for Molecular Medicine, Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
Yulan LuCenter for Molecular Medicine, Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
Xinran DongCenter for Molecular Medicine, Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
Guoping LuPediatric Intensive Care Unit, Children's Hospital of Fudan University, Shanghai, 201102, China.
Guoqiang ChengDepartment of Neonates, Key Laboratory of Neonatal Diseases, Ministry of Health, Children's Hospital of Fudan University, Shanghai, 201102, China.
Yanyan QianCenter for Molecular Medicine, Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
Qi NiCenter for Molecular Medicine, Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
Ping ZhangCenter for Molecular Medicine, Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
Lin YangCenter for Molecular Medicine, Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
Bingbing WuCenter for Molecular Medicine, Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China. 081107271@fudan.edu.cn.
Wenhao ZhouCenter for Molecular Medicine, Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China. zhouwenhao@fudan.edu.cn.ORCID http://orcid.org/0000-0002-2028-988X
Children's Hospital of Fudan University · CN

Funding

Shanghai health and family planning commission 201440628Shen Kang Hospital Development Center Clinical Science and technology innovation project of Shanghai SHDC12017110the Ministry of science and technology national key research and development program 2018YFC0116903the project of Shanghai Key Laboratory of Birth Defects 13DZ2260600
6 · The paper itself

Abstract

Genome sequencing is used to make genetic diagnoses in critically ill infants with rapid turnaround time (TAT). Herein, to delineate the value of a genetic diagnosis, we provide the results from 130 pediatric patients in a large, comprehensive children's hospital in China. This study was performed using an optimized trio genome sequencing (OTGS) test. The sequencing depth for patients was 40-50 × and for their parents, it was 8-10 × . Patients from the pediatric or neonatal intensive care unit (PICU/NICU) with complicated clinical features were enrolled between June 2018 and December 2018, each with a phenotype suggesting an underlying genetic disorder. OTGS testing identified pathogenic variants in 62 of 130 individuals, resulting in a diagnosis rate of 47.7%. The TAT varied from 72 to 120 h, with an average of 94 h and a median of 90 h. Of the 62 infants with diagnoses, 48 (77.4%) had pathogenic single-nucleotide variants (SNVs), 12 (19.4%) had pathogenic copy number variations (CNVs) or structure variants (SVs), and 2 (3.2%) had small deletions in one allele plus pathogenic variants in another allele of autosomal recessive genes. Therapeutic strategies for 48.4% (30/62) of the diagnosed patients were modified and included transplantation, dietary recommendations, or change of drugs, which avoided morbidity and improved prognosis. This study provided high-capacity OTGS testing in detecting SNVs and chromosomal abnormalities with fast response, higher diagnostic yield, and lower cost. OTGS demonstrates the potential to be the first-tier of genetic testing used in critically ill infants in developing countries.

Indexed as

DNA Copy Number VariationsGenetic TestingWhole Genome SequencingChinaCritical IllnessFemaleHumansInfantInfant, NewbornMale

Identifiers

PMID31965297
OpenAlexW3002322264

What OpenQuestion holds

Textmetadata
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.