Evidence map›Paper›PMID 30480253›Full record

ReviewJournal of Alzheimer's disease reports2018

Human Brain Single Nucleotide Polymorphism: Validation of DNA Sequencing.

Ángel J Picher, Félix Hernández, Bettina Budeus, Eduardo Soriano, Jesús Avila

Open access · diamondAbstract readReview
In one paragraph

Review in Journal of Alzheimer's disease reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.1field-weighted citation impact, top 54% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

5 authors at 3 institutions in 2 countries.

Ángel J PicherExpedeon S.L.U., Parque Científico de Madrid, Cantoblanco, Madrid, Spain.
Félix HernándezCentro de Biología Molecular Severo Ochoa (CSIC-UAM), Madrid, Spain.
Bettina BudeusExpedeon Bioscience GmbH and Co KG, Heidelberg, Germany.
Eduardo SorianoCentro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), ISCIII, Madrid, Spain.
Jesús AvilaCentro de Biología Molecular Severo Ochoa (CSIC-UAM), Madrid, Spain.
Instituto de Salud Carlos III · ESExpedeon (Germany) · DEInstitució Catalana de Recerca i Estudis Avançats · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic factors may be involved in the onset of neurodegenerative diseases like Alzheimer's disease. In the case of the familial type, the disease is due to an inherited mutation at specific sites in three genes. Also, there are some genetic risk factors that facilitate the development of sporadic Alzheimer's disease. All of these genetic analyses were performed using blood samples as a source of DNA. However, the presence of somatic mutations in the brain can be identified only using brain samples. In this review, we comment on a method that correctly identifies single nucleotide variations in the human brain and that can be used to validate high-through sequencing techniques. This method involves selective enrichment of the DNA population bearing the nucleotide variations, thereby facilitating posterior validation of the data by Sanger's sequencing.

Indexed as

Brain somatic mutationsDNA sequencingneurodegeneration

Identifiers

PMID30480253
PMCPMC6159612
OpenAlexW2792036353

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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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.