Evidence map›Paper›PMID 31269367›Full record

ReviewThe New England journal of medicine2019

Genetic Variation, Comparative Genomics, and the Diagnosis of Disease.

Evan E Eichler

Abstract readReview
In one paragraph

Review in The New England journal of medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
102citing papers in PubMed, 1 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

102 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Precise breakpoint detection in a patient with 9p- syndrome.Cold Spring Harbor molecular case studies · 2020
    Pooled it
  2. Article
  3. Article
  4. Article
  5. Review
  6. Article
  7. Review
  8. Article
  9. Article
  10. Article
  11. Review
  12. Long-read genome sequencing and multi-omics in aging and neurodegeneration.medRxiv : the preprint server for health sciences · 2025
    Article
  13. Article
  14. Article
  15. Regulation ofInternational journal of molecular sciences · 2025
    Review
  16. Article
  17. Egypt Genome: Towards an African new genomic era.Journal of advanced research · 2025
    Review
  18. Article
  19. Article
  20. Review

42 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

1 author.

Evan E EichlerFrom the Department of Genome Sciences, University of Washington School of Medicine, and the Howard Hughes Medical Institute, University of Washington, Seattle.ORCID 0000-0002-8246-4014

Funding

Intellectual and Developmental Disabilities Research CenterU54HD083091 · NICHD · UNIVERSITY OF WASHINGTON · PI GURALNICK, MICHAEL J · 2014 to 2019
$7.9M
Sequence-resolved structural variation of human genomesR01HG010169 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2018 to 2026
$4.5M
Howard Hughes Medical InstituteNHGRI NIH HHS R01 HG010169NICHD NIH HHS U54 HD083091
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Genetic VariationGenomicsDiseaseGenetic Diseases, InbornGenetic LinkageGenetic Predisposition to DiseaseGenetic TestingHumansSequence Analysis, DNATelomere

Identifiers

PMID31269367
PMCPMC6681822

What OpenQuestion holds

Textmetadata
LicenceTDM
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.