Evidence map›Paper›PMID 39294369›Full record

ArticleNature methods2024

Genomics 2 Proteins portal: a resource and discovery tool for linking genetic screening outputs to protein sequences and structures.

Seulki Kwon, Jordan Safer, Duyen T Nguyen, David Hoksza, Patrick May, Jeremy A Arbesfeld, Alan F Rubin, Arthur J Campbell, Alex Burgin, Sumaiya Iqbal

Abstract read
In one paragraph

Article in Nature methods, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
19citing 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

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

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. MAVISp: A modular structure-based framework for protein variant effects.Protein science : a publication of the Protein Society · 2026
    Article
  8. Article
  9. Clinical,medRxiv : the preprint server for health sciences · 2026
    Article
  10. Article
  11. Evidence forbioRxiv : the preprint server for biology · 2025
    Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Databases of ligand-binding pockets and protein-ligand interactions.Computational and structural biotechnology journal · 2024
    Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors.

Seulki Kwon *Center for the Development of Therapeutics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jordan Safer *Center for the Development of Therapeutics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0009-0008-6007-7591
Duyen T NguyenPATTERN, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
David HokszaDepartment of Software Engineering, Faculty of Mathematics and Physics, Charles University, Prague, Czech Republic.
Patrick MayLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.ORCID http://orcid.org/0000-0001-8698-3770
Jeremy A ArbesfeldThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Alan F RubinBioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.ORCID http://orcid.org/0000-0003-1474-605X
Arthur J CampbellCenter for the Development of Therapeutics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Alex BurginCenter for the Development of Therapeutics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Sumaiya IqbalCenter for the Development of Therapeutics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. sumaiya@broadinstitute.org.ORCID http://orcid.org/0000-0001-7700-4374

Funding

Technology to understand genetic variant effects in contextRM1HG010461 · NHGRI · UNIVERSITY OF WASHINGTON · PI Douglas M Fowler, Bruce Colston Trapnell · 2019 to 2026
$18.9M
The Center for Actionable Variant Analysis; measuring variant function at scaleUM1HG011969 · NHGRI · UNIVERSITY OF WASHINGTON · PI Douglas M Fowler, Lea Starita · 2021 to 2026
$9.9M
NHGRI NIH HHS RM1 HG010461NHGRI NIH HHS UM1 HG011969U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) RM1HG010461U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) UM1HG011969
6 · The paper itself

Abstract

Recent advances in AI-based methods have revolutionized the field of structural biology. Concomitantly, high-throughput sequencing and functional genomics have generated genetic variants at an unprecedented scale. However, efficient tools and resources are needed to link disparate data types-to 'map' variants onto protein structures, to better understand how the variation causes disease, and thereby design therapeutics. Here we present the Genomics 2 Proteins portal ( https://g2p.broadinstitute.org/ ): a human proteome-wide resource that maps 20,076,998 genetic variants onto 42,413 protein sequences and 77,923 structures, with a comprehensive set of structural and functional features. Additionally, the Genomics 2 Proteins portal allows users to interactively upload protein residue-wise annotations (for example, variants and scores) as well as the protein structure beyond databases to establish the connection between genomics to proteins. The portal serves as an easy-to-use discovery tool for researchers and scientists to hypothesize the structure-function relationship between natural or synthetic variations and their molecular phenotypes.

Indexed as

Databases, ProteinGenomicsAmino Acid SequenceGenetic TestingGenetic VariationHumansProtein ConformationProteinsProteomeSoftwareProteinsProteome

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.