Evidence map›Paper›PMID 31280677›Full record

ArticleAmyotrophic lateral sclerosis & frontotemporal degeneration2019

The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public.

Rick A A van der Spek, Wouter van Rheenen, Sara L Pulit, Kevin P Kenna, Leonard H van den Berg, Jan H Veldink, Project MinE ALS Sequencing Consortium

Abstract read
In one paragraph

Article in Amyotrophic lateral sclerosis & frontotemporal degeneration, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
50citing papers in PubMed, 2 pooled it
–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

50 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
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  9. Genetic Variants inInternational journal of molecular sciences · 2025
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  20. Investigating the prevalence ofBrain communications · 2024
    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

7 authors.

Rick A A van der SpekDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht , Utrecht , The Netherlands.ORCID 0000-0001-9983-204X
Wouter van RheenenDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht , Utrecht , The Netherlands.ORCID 0000-0002-5860-1533
Sara L PulitDepartment of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht , Utrecht , The Netherlands.ORCID 0000-0002-2502-3669
Kevin P KennaDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht , Utrecht , The Netherlands.
Leonard H van den BergDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht , Utrecht , The Netherlands.ORCID 0000-0002-5203-9674
Jan H VeldinkDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht , Utrecht , The Netherlands.ORCID 0000-0001-5572-9657
Project MinE ALS Sequencing Consortium

Funding

Identification of genes causative for familial ALS gene using exome sequencingR01NS073873 · NINDS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI LANDERS, JOHN E · 2011 to 2019
$4.6M
NINDS NIH HHS R01 NS073873
6 · The paper itself

Abstract

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive fatal neurodegenerative disease affecting one in 350 people. The aim of Project MinE is to elucidate the pathophysiology of ALS through whole-genome sequencing at least 15,000 ALS patients and 7500 controls at 30× coverage. Here, we present the Project MinE data browser ( databrowser.projectmine.com ), a unique and intuitive one-stop, open-access server that provides detailed information on genetic variation analyzed in a new and still growing set of 4366 ALS cases and 1832 matched controls. Through its visual components and interactive design, the browser specifically aims to be a resource to those without a biostatistics background and allow clinicians and preclinical researchers to integrate Project MinE data into their own research. The browser allows users to query a transcript and immediately access a unique combination of detailed (meta)data, annotations and association statistics that would otherwise require analytic expertise and visits to scattered resources.

Indexed as

Access to InformationAmyotrophic Lateral SclerosisBiomedical ResearchData MiningHumansMutation, MissensePolymorphism, Single NucleotideWhole Genome Sequencing

Identifiers

PMID31280677
PMCPMC7893599

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.