Evidence map›Paper›PMID 31676867›Full record

ArticleNature genetics2019

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.

Antonio Rueda Martin, Eleanor Williams, Rebecca E Foulger, Sarah Leigh, Louise C Daugherty, Olivia Niblock, Ivone U S Leong, Katherine R Smith, Oleg Gerasimenko, Eik Haraldsdottir and 12 more

Abstract read
PubMed Publisher
In one paragraph

Article in Nature genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 358 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
358citing papers in PubMed, 3 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

358 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Obtaining a Diagnostic Yield via Scan findings prior to the introduction of SEquencing retrospectivelY (ODYSSEY): a cohort study.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2026
    Article
  14. Article
  15. Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.Progress in neuro-psychopharmacology & biological psychiatry · 2026
    Article
  16. Article
  17. Review
  18. AAVC: An automated framework for high-accuracy ACMG-based variant classification.Genetics in medicine : official journal of the American College of Medical Genetics · 2026
    Article
  19. Article
  20. Article

298 more citing papers are in PubMed but not listed here.

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

22 authors.

Antonio Rueda Martin *Genomics England, London, UK.
Eleanor Williams *Genomics England, London, UK.
Rebecca E FoulgerGenomics England, London, UK.
Sarah LeighGenomics England, London, UK.ORCID http://orcid.org/0000-0003-3368-7059
Louise C DaughertyGenomics England, London, UK.
Olivia NiblockGenomics England, London, UK.
Ivone U S LeongGenomics England, London, UK.ORCID http://orcid.org/0000-0002-0831-3461
Katherine R SmithGenomics England, London, UK.ORCID http://orcid.org/0000-0002-0329-5938
Oleg GerasimenkoGenomics England, London, UK.
Eik HaraldsdottirGenomics England, London, UK.
Ellen ThomasGenomics England, London, UK.
Richard H ScottGenomics England, London, UK.
Emma BapleGenomics England, London, UK.
Arianna TucciGenomics England, London, UK.
Helen BrittainGenomics England, London, UK.
Anna de BurcaGenomics England, London, UK.
Kristina IbañezGenomics England, London, UK.
Dalia KasperaviciuteGenomics England, London, UK.
Damian SmedleyGenomics England, London, UK.
Mark CaulfieldGenomics England, London, UK.ORCID http://orcid.org/0000-0001-9295-3594
Augusto RendonGenomics England, London, UK.ORCID http://orcid.org/0000-0001-8994-0039
Ellen M McDonaghGenomics England, London, UK. ellen.mcdonagh@genomicsengland.co.uk.ORCID http://orcid.org/0000-0001-5806-6174

Funding

British Heart Foundation FS/12/82/29736Medical Research Council G9521010Medical Research Council MC_EX_MR/M009203/1Medical Research Council MC_PC_14089Medical Research Council MR/M009203/1Medical Research Council MR/S006753/1
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Computational BiologyCrowdsourcingGenetic MarkersGenetic TestingRare DiseasesSoftwareConsensus SequenceEnglandExpert TestimonyHigh-Throughput Nucleotide SequencingHumansGenetic Markers

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.