Evidence map›Paper›PMID 38699161›Full record

ArticleArXiv2024

Guidelines for releasing a variant effect predictor.

Benjamin J Livesey, Mihaly Badonyi, Mafalda Dias, Jonathan Frazer, Sushant Kumar, Kresten Lindorff-Larsen, David M McCandlish, Rose Orenbuch, Courtney A Shearer, Lara Muffley and 8 more

Abstract readPreprint
In one paragraph

Article in ArXiv, 2024. 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

18 authors.

Benjamin J LiveseyMRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Mihaly BadonyiMRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Mafalda DiasCentre for Genomic Regulation (CRG),The Barcelona Institute of Science and Technology, Barcelona, Spain.
Jonathan FrazerCentre for Genomic Regulation (CRG),The Barcelona Institute of Science and Technology, Barcelona, Spain.
Sushant KumarDepartment of Medical Biophysics, University of Toronto; Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada.
Kresten Lindorff-LarsenLinderstrøm-Lang Centre for Protein Science, Department of Biology, University of Copenhagen, Copenhagen, Denmark.
David M McCandlishSimons Center for Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.
Rose OrenbuchDepartment of Systems Biology, Harvard Medical School, Boston, MA, USA.
Courtney A ShearerDepartment of Systems Biology, Harvard Medical School, Boston, MA, USA.
Lara MuffleyDepartment of Genome Sciences, University of Washington and the Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.
Julia ForemanEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Andrew M GlazerVanderbilt University Medical Center, Nashville, TN, USA.
Ben LehnerWellcome Sanger Institute, Cambridge, UK; Universitat Pompeu Fabra (UPF), Barcelona, Spain; Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain.
Debora S MarksDepartment of Systems Biology, Harvard Medical School, Boston, MA, USA.
Frederick P RothDepartment of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Alan F RubinBioinformatics Division, Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology, University of Melbourne, Parkville, Australia.
Lea M StaritaDepartment of Genome Sciences, University of Washington and the Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.
Joseph A MarshMRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.

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
Making antibody generation rapid, scalable, and democratic through machine learning and continuous evolutionR01CA260415 · NCI · UNIVERSITY OF CALIFORNIA-IRVINE · PI KRUSE, ANDREW, LIU, CHANG C · 2020 to 2024
$8.4M
Computational analysis of complex genetic interactionsR35GM133613 · NIGMS · COLD SPRING HARBOR LABORATORY · PI David Martin McCandlish · 2019 to 2026
$3.5M
Advancing the implementation of variant-level functional data into clinical databases and clinical practiceR01HG013025 · NHGRI · UNIVERSITY OF WASHINGTON · PI Lea Starita, Andrew Ben Stergachis · 2023 to 2026
$3.1M
High-throughput discovery of disease-associated ion channel variantsR35GM150465 · NIGMS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Andrew M. Glazer · 2023 to 2026
$1.8M
NCI NIH HHS R01 CA260415NHGRI NIH HHS R01 HG013025NHGRI NIH HHS RM1 HG010461NHGRI NIH HHS UM1 HG011969NIGMS NIH HHS R35 GM133613NIGMS NIH HHS R35 GM150465Wellcome Trust
6 · The paper itself

Abstract

Computational methods for assessing the likely impacts of mutations, known as variant effect predictors (VEPs), are widely used in the assessment and interpretation of human genetic variation, as well as in other applications like protein engineering. Many different VEPs have been released to date, and there is tremendous variability in their underlying algorithms and outputs, and in the ways in which the methodologies and predictions are shared. This leads to considerable challenges for end users in knowing which VEPs to use and how to use them. Here, to address these issues, we provide guidelines and recommendations for the release of novel VEPs. Emphasising open-source availability, transparent methodologies, clear variant effect score interpretations, standardised scales, accessible predictions, and rigorous training data disclosure, we aim to improve the usability and interpretability of VEPs, and promote their integration into analysis and evaluation pipelines. We also provide a large, categorised list of currently available VEPs, aiming to facilitate the discovery and encourage the usage of novel methods within the scientific community.

Identifiers

PMID38699161
PMCPMC11065047

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.