Evidence map›Paper›PMID 36053226›Full record

ArticleLaboratory medicine2023

Application of the Single-Molecule Real-Time Technology (SMRT) for Identification of HKαα Thalassemia Allele.

Min Zhang, Zhaodong Lin, Meihuan Chen, Yali Pan, Yanhong Zhang, Lingji Chen, Na Lin, Yuanyuan Ren, Hongjin Jia, Meiying Cai and 2 more

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

Article in Laboratory medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.6field-weighted citation impact, top 31% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. Review
  3. 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

12 authors at 4 institutions in 1 country.

Min ZhangMedical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Zhaodong LinDepartment of Clinical Laboratorial Examination, The First Hospital Affiliated to Fujian Medical University, Fuzhou, China.
Meihuan ChenMedical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Yali PanMedical Technology and Engineering College of Fujian Medical University, Fuzhou, China.
Yanhong ZhangFujian University of Traditional Chinese Medicine, Fuzhou, China.
Lingji ChenMedical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Na LinMedical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Yuanyuan RenBerry Genomics Corporation, Beijing, China.
Hongjin JiaBerry Genomics Corporation, Beijing, China.
Meiying CaiMedical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Liangpu XuMedical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Hailong HuangMedical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Fujian Medical University · CNBerry Oncology (China) · CNFirst Affiliated Hospital of Fujian Medical University · CNFujian University of Traditional Chinese Medicine · CN

Funding

Fujian Project of Cultivation of Young and Middle-aged Medical Talents 2013- ZQN- ZD- 6Fujian Provincial Health Technology Project 2017- 2- 10National Natural Science Foundation of China 81970170National Natural Science Foundation of Fujian Province 2019J01510
6 · The paper itself

Abstract

objectiveSingle-molecule real-time technology (SMRT) is a sequencing technology using the DNA polymerases and fluorescently tagged nucleotides to accurately sequence DNA strands. The purpose of this study was to evaluate the detection accuracy of SMRT for identification of the Hong Kongαα (HKαα) thalassemia allele.

methodsWe conducted a blinded study of 33 samples of known HKαα alleles. These alleles were detected using SMRT to evaluate accuracy.

resultsWe conducted a blinded study of 33 known HKαα samples and found all HKαα variants detected by SMRT to be concordant with those independently assigned by gap-polymerase chain reaction (gap-PCR), reverse dot blot hybridization, and 2-round nested PCR. In addition, SMRT detected 2 β-thalassemia variants that were missed by conventional techniques.

conclusionThe results demonstrate that SMRT offers a higher detection accuracy of thalassemia rare and new loci. It is an efficient, reliable, and broad-spectrum test that can be widely used for thalassemia screening in the clinic.

Indexed as

alpha-Thalassemiabeta-ThalassemiaAllelesGenotypeHumansPolymerase Chain ReactionTechnologygap-PCRgenetic diagnosisHong Kongααsingle-molecule real-time technology (SMRT)thalassemiaα-globin

Identifiers

PMID36053226
PMCPMC9825284
OpenAlexW4294276569

What OpenQuestion holds

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LicenceCC BY
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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.