Evidence map›Paper›PMID 35428271›Full record

ArticleGenome biology2022

MAVE-NN: learning genotype-phenotype maps from multiplex assays of variant effect.

Ammar Tareen, Mahdi Kooshkbaghi, Anna Posfai, William T Ireland, David M McCandlish, Justin B Kinney

Abstract read
In one paragraph

Article in Genome biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers.

0numbers the graph read from it
0cells of the map it votes in
60citing 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

60 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. PoolParty: streamlined design of DNA sequence libraries in Python.bioRxiv : the preprint server for biology · 2026
    Article
  10. Genetic background shapes AI-predicted variant effects.bioRxiv : the preprint server for biology · 2026
    Article
  11. Article
  12. Supervised learning of protein variant effects across large-scale mutagenesis datasets.Protein science : a publication of the Protein Society · 2026
    Article
  13. Article
  14. Article
  15. Article
  16. Artificial intelligence directed computational protein design: lessons from COVID-19 for pandemic-ready vaccines and antibody therapeutics.Journal of pharmacy & pharmaceutical sciences : a publication of the Canadian Society for Pharmaceutical Sciences, Societe canadienne des sciences pharmaceutiques · 2026
    Review
  17. Article
  18. Review
  19. Article
  20. Control of gene output by intron RNA structure.bioRxiv : the preprint server for biology · 2025
    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

6 authors.

Ammar TareenSimons Center for Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, 11724, NY, USA.
Mahdi KooshkbaghiSimons Center for Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, 11724, NY, USA.
Anna PosfaiSimons Center for Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, 11724, NY, USA.
William T IrelandDepartment of Physics, California Institute of Technology, Pasadena, 91125, CA, USA.
David M McCandlishSimons Center for Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, 11724, NY, USA.
Justin B KinneySimons Center for Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, 11724, NY, USA. jkinney@cshl.edu.ORCID http://orcid.org/0000-0003-1897-3778

Funding

Computational analysis of complex genetic interactionsR35GM133613 · NIGMS · COLD SPRING HARBOR LABORATORY · PI David Martin McCandlish · 2019 to 2026
$3.5M
Biophysical modeling of cis-regulatory complexes in transcription and splicing using massively parallel reporter assaysR35GM133777 · NIGMS · COLD SPRING HARBOR LABORATORY · PI KINNEY, JUSTIN B. · 2019 to 2023
$2.4M
NIGMS NIH HHS R35 GM133613NIGMS NIH HHS R35 GM133777
6 · The paper itself

Abstract

Multiplex assays of variant effect (MAVEs) are a family of methods that includes deep mutational scanning experiments on proteins and massively parallel reporter assays on gene regulatory sequences. Despite their increasing popularity, a general strategy for inferring quantitative models of genotype-phenotype maps from MAVE data is lacking. Here we introduce MAVE-NN, a neural-network-based Python package that implements a broadly applicable information-theoretic framework for learning genotype-phenotype maps-including biophysically interpretable models-from MAVE datasets. We demonstrate MAVE-NN in multiple biological contexts, and highlight the ability of our approach to deconvolve mutational effects from otherwise confounding experimental nonlinearities and noise.

Indexed as

Biological AssayNeural Networks, ComputerGenotypeMutationPhenotype

Identifiers

PMID35428271
PMCPMC9011994

What OpenQuestion 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 OpenQuestion graph.