Evidence map›Paper›PMID 32082115›Full record

ArticleFrontiers in neuroscience2020

Structural Variants May Be a Source of Missing Heritability in sALS.

Frances Theunissen, Loren L Flynn, Ryan S Anderton, Frank Mastaglia, Julia Pytte, Leanne Jiang, Stuart Hodgetts, Daniel K Burns, Ann Saunders, Sue Fletcher and 2 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in neuroscience, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.

0numbers the graph read from it
0cells of the map it votes in
35citing papers in PubMed
3.8field-weighted citation impact, top 5% 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

35 citing papers in PubMed, 65 citations in OpenAlex.

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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

12 authors at 4 institutions in 1 country.

Frances TheunissenPerron Institute for Neurological and Translational Science, Nedlands, WA, Australia.
Loren L FlynnPerron Institute for Neurological and Translational Science, Nedlands, WA, Australia.
Ryan S AndertonPerron Institute for Neurological and Translational Science, Nedlands, WA, Australia.
Frank MastagliaPerron Institute for Neurological and Translational Science, Nedlands, WA, Australia.
Julia PyttePerron Institute for Neurological and Translational Science, Nedlands, WA, Australia.
Leanne JiangPerron Institute for Neurological and Translational Science, Nedlands, WA, Australia.
Stuart HodgettsPerron Institute for Neurological and Translational Science, Nedlands, WA, Australia.
Daniel K BurnsZinfandel Pharmaceuticals, Chapel Hill, NC, United States.
Ann SaundersZinfandel Pharmaceuticals, Chapel Hill, NC, United States.
Sue FletcherCentre for Neuromuscular and Neurological Disorders, University of Western Australia, Nedlands, WA, Australia.
Steve D WiltonPerron Institute for Neurological and Translational Science, Nedlands, WA, Australia.
Patrick Anthony AkkariPerron Institute for Neurological and Translational Science, Nedlands, WA, Australia.
Perron Institute for Neurological and Translational Science · AUUniversity of Western Australia · AUMurdoch University · AUThe University of Notre Dame Australia · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The underlying genetic and molecular mechanisms that drive amyotrophic lateral sclerosis (ALS) remain poorly understood. Structural variants within the genome can play a significant role in neurodegenerative disease risk, such as the repeat expansion in

Indexed as

amyotrophic lateral sclerosisclinical trial stratificationgenetic markermissing heritabilitystructural variant

Identifiers

PMID32082115
PMCPMC7005198
OpenAlexW3004123198

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.