Evidence map›Paper›PMID 40161830›Full record

ArticlebioRxiv : the preprint server for biology2025

Inference and visualization of complex genotype-phenotype maps with

Carlos Martí-Gómez, Juannan Zhou, Wei-Chia Chen, Arlin Stoltzfus, Justin B Kinney, David M McCandlish

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

6 authors.

Carlos Martí-GómezSimons Center for Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 11724.ORCID 0000-0002-2042-843X
Juannan ZhouDepartment of Biology, University of Florida, Gainesville, FL, 32611.
Wei-Chia ChenDepartment of Physics, National Chung Cheng University, Chiayi 62102, Taiwan, Republic of China.
Arlin StoltzfusInstitute for Bioscience and Biotechnology Research, Rockville, USA.
Justin B KinneySimons Center for Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 11724.ORCID 0000-0003-1897-3778
David M McCandlishSimons Center for Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 11724.

Funding

A unified quantitative modeling strategy for multiplex assays of variant effectR01HG011787 · NHGRI · COLD SPRING HARBOR LABORATORY · PI JUSTIN B. KINNEY · 2022 to 2026
$4.1M
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
Modeling non-additive genetic mechanisms for complex traitsR35GM154908 · NIGMS · UNIVERSITY OF FLORIDA · PI Juannan Zhou · 2024 to 2026
$1.0M
Graphical Processing Units and a Large-Memory Compute Node for Applications in Genomics, Neuroscience, and Structural BiologyS10OD028632 · OD · COLD SPRING HARBOR LABORATORY · PI SIEPEL, ADAM CHARLES · 2020 to 2020
$437k
NHGRI NIH HHS R01 HG011787NIGMS NIH HHS R35 GM133613NIGMS NIH HHS R35 GM133777NIGMS NIH HHS R35 GM154908NIH HHS S10 OD028632
6 · The paper itself

Abstract

Understanding how biological sequences give rise to observable traits, that is, how genotype maps to phenotype, is a central goal in biology. Yet our knowledge of genotype-phenotype maps in natural systems is limited due to the high dimensionality of sequence space and the context-dependent effects of mutations. The emergence of Multiplex assays of variant effect (MAVEs), along with large collections of natural sequences, offer new opportunities to empirically characterize these maps at an unprecedented scale. However, tools for statistical and exploratory analysis of these high-dimensional data are still needed. To address this gap, we developed

Indexed as

epistasisfitness landscapeGaussian processgenotype-phenotype mapShine-Dalgarno sequence

Identifiers

PMID40161830
PMCPMC11952336

What OpenQuestion holds

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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.