Evidence map›Paper›PMID 37426450›Full record

ArticleArXiv2023

Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect.

Melina Claussnitzer, Victoria N Parikh, Alex H Wagner, Jeremy A Arbesfeld, Carol J Bult, Helen V Firth, Lara A Muffley, Alex N Nguyen Ba, Kevin Riehle, Frederick P Roth and 4 more

Abstract readPreprint
PubMed Full text at PMC
In one paragraph

Article in ArXiv, 2023. 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

14 authors.

Melina ClaussnitzerThe Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Victoria N ParikhStanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Stanford, CA, USA 94305.
Alex H WagnerThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43215, USA.
Jeremy A ArbesfeldThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43215, USA.
Carol J BultThe Jackson Laboratory, Bar Harbor, ME 04609, USA.
Helen V FirthWellcome Sanger Institute, Hinxton, Cambridge, UK.
Lara A MuffleyDepartment of Genome Sciences, University of Washington, Seattle, WA 98105, USA.
Alex N Nguyen BaDepartment of Biology, University of Toronto at Mississauga, Mississauga, Ontario, Canada.
Kevin RiehleDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Frederick P RothDonnelly Centre, University of Toronto, Toronto, Ontario, Canada.
Daniel TabetDonnelly Centre, University of Toronto, Toronto, Ontario, Canada.
Benedetta BolognesiInstitute for Bioengineering of Catalunya (IBEC), The Barcelona Institute of Science and Technology, Barcelona, Spain.
Andrew M GlazerVanderbilt University Medical Center, Nashville, TN 37232, USA.
Alan F RubinBioinformatics Division, WEHI, Parkville, Victoria, Australia.

Funding

Baylor College of Medicine/Stanford University Clinical Genome Resource (CLINGEN)U24HG009649 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI TERI Ellen KLEIN, Aleksandar Milosavljevic · 2021 to 2026
$31.5M
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
Bridging the gap between type 2 diabetes GWAS and therapeutic targetsUM1DK126185 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI CLAUSSNITZER, MELINA C, GLOYN, ANNA LOUISE · 2020 to 2024
$9.5M
Systematically mapping variant effects for cardiovascular genesR01HL164675 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI ASHLEY, EUAN A, RODEN, DAN M · 2022 to 2025
$8.1M
Development and validation of a computable knowledge framework for genomic medicineR35HG011949 · NHGRI · RESEARCH INST NATIONWIDE CHILDREN'S HOSP · PI WAGNER, ALEX HANDLER · 2021 to 2025
$2.4M
A pipeline for identifying disease-causing variants in transmembrane proteinsR00HG010904 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GLAZER, ANDREW M. · 2022 to 2024
$737k
The Role of RBM20 Sequence and Expression in Dilated CardiomyopathiesK08HL143185 · NHLBI · STANFORD UNIVERSITY · PI PARIKH, VICTORIA · 2019 to 2023
$725k
NHGRI NIH HHS R00 HG010904NHGRI NIH HHS R35 HG011949NHGRI NIH HHS RM1 HG010461NHGRI NIH HHS U24 HG009649NHGRI NIH HHS UM1 HG011969NHLBI NIH HHS K08 HL143185NHLBI NIH HHS R01 HL164675NIDDK NIH HHS UM1 DK126185
6 · The paper itself

Abstract

Multiplexed Assays of Variant Effect (MAVEs) have emerged as a powerful approach for interrogating thousands of genetic variants in a single experiment. The flexibility and widespread adoption of these techniques across diverse disciplines has led to a heterogeneous mix of data formats and descriptions, which complicates the downstream use of the resulting datasets. To address these issues and promote reproducibility and reuse of MAVE data, we define a set of minimum information standards for MAVE data and metadata and outline a controlled vocabulary aligned with established biomedical ontologies for describing these experimental designs.

Indexed as

deep mutational scanningDMSgenetic variantsgenomicsMAVEmultiplexed assays of variant effectstandards

Identifiers

PMID37426450
PMCPMC10327236

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.