Evidence map›Paper›PMID 37995684›Full record

ArticleAmerican journal of human genetics2023

Increasing diversity of functional genetics studies to advance biological discovery and human health.

Sophia H L George, Alejandra Medina-Rivera, Youssef Idaghdour, Tuuli Lappalainen, Irene Gallego Romero

Abstract read
In one paragraph

Article in American journal of human genetics, 2023. 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
–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

13 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
  9. Article
  10. Review
  11. Article
  12. Article
  13. 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

5 authors.

Sophia H L GeorgeDepartment of Obstetrics, Gynecology and Reproductive Sciences, Miller School of Medicine, University of Miami, Miami, FL, USA; Sylvester Comprehensive Cancer Center, Miami, FL, USA. Electronic address: sophia.george@med.miami.edu.
Alejandra Medina-RiveraLaboratorio Internacional de Investigación Sobre El Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, Querétaro, México.
Youssef IdaghdourProgram in Biology, Division of Science and Mathematics, New York University Abu Dhabi, Abu Dhabi, UAE; Public Health Research Center, New York University Abu Dhabi, Abu Dhabi, UAE; Center for Genomics and Systems Biology, New York University Abu Dhabi, Abu Dhabi, UAE.
Tuuli LappalainenScience for Life Laboratory, Department of Gene Technology, KTH Royal Institute of Technology, Stockholm, Sweden; New York Genome Center, New York, NY, USA. Electronic address: tuuli.lappalainen@scilifelab.se.
Irene Gallego RomeroMelbourne Integrative Genomics and School of BioSciences, University of Melbourne, Parkville, VIC, Australia; Center for Genomics, Evolution and Medicine, Institute of Genomics, University of Tartu, Tartu, Estonia.

Funding

NIMHD NIH HHS L60 MD014321
6 · The paper itself

Abstract

In this perspective we discuss the current lack of genetic and environmental diversity in functional genomics datasets. There is a well-described Eurocentric bias in genetic and functional genomic research that has a clear impact on the benefit this research can bring to underrepresented populations. Current research focused on genetic variant-to-function experiments aims to identify molecular QTLs, but the lack of data from genetically diverse individuals has limited analyses to mostly populations of European ancestry. Although some efforts have been established to increase diversity in functional genomic studies, much remains to be done to consistently generate data for underrepresented populations from now on. We discuss the major barriers for this continuity and suggest actionable insights, aiming to empower research and researchers from underserved populations.

Indexed as

GenomicsPopulation GroupsHumans

Identifiers

PMID37995684
PMCPMC10716434

What Socratic 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 Socratic graph.