Evidence map›Paper›PMID 29581887›Full record

ArticleNPJ genomic medicine2018

Improving imputation in disease-relevant regions: lessons from cystic fibrosis.

Naim Panjwani, Bowei Xiao, Lizhen Xu, Jiafen Gong, Katherine Keenan, Fan Lin, Gengming He, Zeynep Baskurt, Sangook Kim, Lin Zhang and 10 more

Registry-linked trialAbstract read
In one paragraph

Article in NPJ genomic medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00037765 (Gene Modifiers of Cystic Fibrosis Lung Disease), which is not on this map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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.

NCT00037765 active not recruitingnot on this map

Gene Modifiers of Cystic Fibrosis Lung Disease

TypeobservationalSponsorUniversity of North Carolina, Chapel HillRan2001 to 2027Enrolled600ConditionsCystic Fibrosis, Lung Diseases
3 · Its place in the literature

Who cites it

9 citing papers in PubMed.

  1. Review
  2. Article
  3. Genome-wide association study of susceptibility toThe European respiratory journal · 2024
    Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. 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

20 authors.

Naim Panjwani *1Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.ORCID 0000-0001-7551-0759
Bowei Xiao *1Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.
Lizhen Xu2The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
Jiafen Gong1Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.
Katherine Keenan3Program in Physiology and Experimental Medicine, The Hospital for Sick Children, Toronto, ON Canada.
Fan Lin1Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.
Gengming He1Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.
Zeynep Baskurt1Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.
Sangook Kim4Biostatistics Division, Dalla Lana School of Public Health, University of Toronto, Toronto, ON Canada.
Lin Zhang5Department of Statistics, University of Toronto, Toronto, ON Canada.
Mohsen Esmaeili1Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.
Scott Blackman6Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MA USA.
Stephen W Scherer2The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.
Harriet Corvol8Pediatric Pulmonary Department, Hospital Trousseau, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
Mitchell Drumm10Department of Pediatrics, Case Western Reserve University, Cleveland, OH USA.
Michael Knowles12Cystic Fibrosis Pulmonary Research and Treatment Center, University of North Carolina, Chapel Hill, NC USA.
Garry Cutting6Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MA USA.
Johanna M Rommens1Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.
Lei Sun4Biostatistics Division, Dalla Lana School of Public Health, University of Toronto, Toronto, ON Canada.
Lisa J Strug1Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.

Funding

MOLECULAR GENETICS OF CYSTIC FIBROSISR01DK044003 · NIDDK · JOHNS HOPKINS UNIVERSITY · PI Garry R Cutting · 1991 to 2026
$6.7M
NIDDK NIH HHS R01 DK044003
6 · The paper itself

Abstract

Does genotype imputation with public reference panels identify variants contributing to disease? Genotype imputation using the 1000 Genomes Project (1KG; 2504 individuals) displayed poor coverage at the causal cystic fibrosis (CF) transmembrane conductance regulator (

Identifiers

PMID29581887
PMCPMC5861096

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Registered trials

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.