Evidence map›Paper›PMID 26993986›Full record

ReviewJournal of clinical immunology2016

Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions.

Mingyan Fang, Hassan Abolhassani, Che Kang Lim, Jianguo Zhang, Lennart Hammarström

Abstract readReview
PubMed Publisher
In one paragraph

Review in Journal of clinical immunology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
36citing papers in PubMed, 2 pooled it
–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

36 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Review
  5. Dual cancers in Ataxia-Telangiectasia: a case report and literature review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Review
  6. Review
  7. Immunogenetic Landscape in Pediatric Common Variable Immunodeficiency.International journal of molecular sciences · 2024
    Review
  8. Review
  9. Article
  10. Article
  11. Fibrosing mediastinitis in a child with Mendelian susceptibility to mycobacterial disease possibly due to Bacillus Calmette-Guérin.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2022
    Article
  12. Article
  13. Article
  14. Article
  15. First patient in the Iranian Registry with novel DOCK2 gene mutation, presenting with skeletal tuberculosis, and review of literature.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2021
    Article
  16. Review
  17. Review
  18. Article
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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

5 authors.

Mingyan FangDepartment of Laboratory Medicine, Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital Huddinge, -141 86, Stockholm, SE, Sweden.
Hassan AbolhassaniDepartment of Laboratory Medicine, Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital Huddinge, -141 86, Stockholm, SE, Sweden.
Che Kang LimDepartment of Laboratory Medicine, Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital Huddinge, -141 86, Stockholm, SE, Sweden.
Jianguo ZhangBGI-Shenzhen, Shenzhen, 518083, China.
Lennart HammarströmDepartment of Laboratory Medicine, Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital Huddinge, -141 86, Stockholm, SE, Sweden. lennart.hammarstrom@ki.se.ORCID 0000-0002-8635-9609

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Primary immunodeficiency diseases (PIDs) comprise a group of highly heterogeneous immune system diseases and around 300 forms of PID have been described to date. Next Generation Sequencing (NGS) has recently become an increasingly used approach for gene identification and molecular diagnosis of human diseases. Herein we summarize the practical considerations for the interpretation of NGS data and the techniques for searching disease-related PID genes, and suggest future directions for research in this field.

Indexed as

Genetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingAllelesComputational BiologyGenetic Association StudiesGenetic TestingGenome-Wide Association StudyGenomicsGenotypeHumansImmunologic Deficiency SyndromesMutationcandidate gene screeningnext generation sequencingPrimary immunodeficiency (PIDs)

Identifiers

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.