Evidence map›Paper›PMID 32251504›Full record

ArticleBioinformatics (Oxford, England)2020

MaveQuest: a web resource for planning experimental tests of human variant effects.

Da Kuang, Jochen Weile, Roujia Li, Tom W Ouellette, Jarry A Barber, Frederick P Roth

Open access · hybridAbstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.3field-weighted citation impact, top 19% of its field
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

5 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Prioritizing genes for systematic variant effect mapping.Bioinformatics (Oxford, England) · 2021
    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 at 1 institution in 1 country.

Da KuangDonnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada.
Jochen WeileDonnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada.
Roujia LiDonnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada.
Tom W OuelletteDonnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada.
Jarry A BarberDonnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada.
Frederick P RothDonnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada.
University of Toronto · CA

Funding

Genomic Analysis of Network Perturbations in Human DiseaseP50HG004233 · NHGRI · DANA-FARBER CANCER INST · PI VIDAL, MARC · 2007 to 2017
$31.6M
Technology to understand genetic variant effects in contextRM1HG010461 · NHGRI · UNIVERSITY OF WASHINGTON · PI Douglas M Fowler, Bruce Colston Trapnell · 2019 to 2026
$18.9M
NHGRI NIH HHS P50 HG004233NHGRI NIH HHS RM1 HG010461
6 · The paper itself

Abstract

summaryFully realizing the promise of personalized medicine will require rapid and accurate classification of pathogenic human variation. Multiplexed assays of variant effect (MAVEs) can experimentally test nearly all possible variants in selected gene targets. Planning a MAVE study involves identifying target genes with clinical impact, and identifying scalable functional assays for that target. Here, we describe MaveQuest, a web-based resource enabling systematic variant effect mapping studies by identifying potential functional assays, disease phenotypes and clinical relevance for nearly all human protein-coding genes. AVAILABILITY AND IMPLEMENTATION: MaveQuest service: https://mavequest.varianteffect.org/. MaveQuest source code: https://github.com/kvnkuang/mavequest-front-end/. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Indexed as

SoftwareHumansPhenotype

Identifiers

PMID32251504
PMCPMC7320626
OpenAlexW3015080146

What Socratic 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 Socratic graph.