Evidence map›Paper›PMID 32816877›Full record

ReviewCold Spring Harbor perspectives in medicine2021

Causal Inference Methods to Integrate Omics and Complex Traits.

Eleonora Porcu, Jennifer Sjaarda, Kaido Lepik, Cristian Carmeli, Liza Darrous, Jonathan Sulc, Ninon Mounier, Zoltán Kutalik

Abstract readReview
In one paragraph

Review in Cold Spring Harbor perspectives in medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing 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

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

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Article
  6. Can classical statistics and deep learning converge on explainable, causally driven target discovery?DNA research : an international journal for rapid publication of reports on genes and genomes · 2025
    Review
  7. Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. Review
  13. Causal Inference with Genetic Data: Past, Present, and Future.Cold Spring Harbor perspectives in medicine · 2022
    Review
  14. Mendelian Randomization: Concepts and Scope.Cold Spring Harbor perspectives in medicine · 2022
    Review
  15. Review
  16. Computational Tools for Causal Inference in Genetics.Cold Spring Harbor perspectives in medicine · 2021
    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

8 authors.

Eleonora PorcuCenter for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland.
Jennifer SjaardaSwiss Institute of Bioinformatics, Lausanne 1015, Switzerland.
Kaido LepikUniversity Center for Primary Care and Public Health, University of Lausanne, Lausanne 1010, Switzerland.
Cristian CarmeliUniversity Center for Primary Care and Public Health, University of Lausanne, Lausanne 1010, Switzerland.
Liza DarrousSwiss Institute of Bioinformatics, Lausanne 1015, Switzerland.
Jonathan SulcSwiss Institute of Bioinformatics, Lausanne 1015, Switzerland.
Ninon MounierSwiss Institute of Bioinformatics, Lausanne 1015, Switzerland.
Zoltán KutalikSwiss Institute of Bioinformatics, Lausanne 1015, Switzerland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Major biotechnological advances have facilitated a tremendous boost to the collection of (gen-/transcript-/prote-/methyl-/metabol-)omics data in very large sample sizes worldwide. Coordinated efforts have yielded a deluge of studies associating diseases with genetic markers (genome-wide association studies) or with molecular phenotypes. Whereas omics-disease associations have led to biologically meaningful and coherent mechanisms, the identified (non-germline) disease biomarkers may simply be correlates or consequences of the explored diseases. To move beyond this realm, Mendelian randomization provides a principled framework to integrate information on omics- and disease-associated genetic variants to pinpoint molecular traits causally driving disease development. In this review, we show the latest advances in this field, flag up key challenges for the future, and propose potential solutions.

Indexed as

BiotechnologyMultifactorial InheritanceBiomarkersDiseaseGenome-Wide Association StudyHumansPhenotypeBiomarkers

Identifiers

PMID32816877
PMCPMC8091955

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.