Evidence map›Paper›PMID 35647913›Full record

ArticleDisease models & mechanisms2022

Deep phenotyping for precision medicine in Parkinson's disease.

Ann-Kathrin Schalkamp, Nabila Rahman, Jimena Monzón-Sandoval, Cynthia Sandor

Open access · goldAbstract read
In one paragraph

Article in Disease models & mechanisms, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
2.1field-weighted citation impact, top 12% of its field
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

13 citing papers in PubMed, 18 citations in OpenAlex.

  1. Multi-omics profiling of chronic immune-mediated skin diseases: SKINERGY protocol and strategic evaluation.Journal of the European Academy of Dermatology and Venereology : JEADV · 2026
    Observational
  2. Review
  3. Article
  4. Article
  5. Article
  6. GWAS for Periodontitis Phenotypes Using Multi-Ancestry All of Us Research Platform.medRxiv : the preprint server for health sciences · 2025
    Article
  7. Article
  8. Review
  9. Article
  10. Review
  11. Review
  12. Article
  13. 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

4 authors at 1 institution in 1 country.

Ann-Kathrin SchalkampUK Dementia Research Institute at Cardiff University, Division of Psychological Medicine and Clinical Neuroscience, Haydn Ellis Building, Maindy Road, Cardiff CF24 4HQ, UK.
Nabila RahmanUK Dementia Research Institute at Cardiff University, Division of Psychological Medicine and Clinical Neuroscience, Haydn Ellis Building, Maindy Road, Cardiff CF24 4HQ, UK.
Jimena Monzón-SandovalUK Dementia Research Institute at Cardiff University, Division of Psychological Medicine and Clinical Neuroscience, Haydn Ellis Building, Maindy Road, Cardiff CF24 4HQ, UK.
Cynthia SandorUK Dementia Research Institute at Cardiff University, Division of Psychological Medicine and Clinical Neuroscience, Haydn Ellis Building, Maindy Road, Cardiff CF24 4HQ, UK.ORCID 0000-0002-8905-1052
UK Dementia Research Institute · GB

Funding

HCRW_ HS-20-11Medical Research Council
6 · The paper itself

Abstract

A major challenge in medical genomics is to understand why individuals with the same disorder have different clinical symptoms and why those who carry the same mutation may be affected by different disorders. In every complex disorder, identifying the contribution of different genetic and non-genetic risk factors is a key obstacle to understanding disease mechanisms. Genetic studies rely on precise phenotypes and are unable to uncover the genetic contributions to a disorder when phenotypes are imprecise. To address this challenge, deeply phenotyped cohorts have been developed for which detailed, fine-grained data have been collected. These cohorts help us to investigate the underlying biological pathways and risk factors to identify treatment targets, and thus to advance precision medicine. The neurodegenerative disorder Parkinson's disease has a diverse phenotypical presentation and modest heritability, and its underlying disease mechanisms are still being debated. As such, considerable efforts have been made to develop deeply phenotyped cohorts for this disorder. Here, we focus on Parkinson's disease and explore how deep phenotyping can help address the challenges raised by genetic and phenotypic heterogeneity. We also discuss recent methods for data collection and computation, as well as methodological challenges that have to be overcome.

Indexed as

Neurodegenerative DiseasesParkinson DiseaseGenomicsHumansPhenotypePrecision MedicineGeneticsPhenotypingPrecision medicine

Identifiers

PMID35647913
PMCPMC9178512
OpenAlexW4282942373

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.