Evidence map›Paper›PMID 30262650›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2018

Submegabase copy number variations arise during cerebral cortical neurogenesis as revealed by single-cell whole-genome sequencing.

Suzanne Rohrback, Craig April, Fiona Kaper, Richard R Rivera, Christine S Liu, Benjamin Siddoway, Jerold Chun

Erratum issuedOpen access · bronzeAbstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 30 papers.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed
5.8field-weighted citation impact, top 4% 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

30 citing papers in PubMed, 56 citations in OpenAlex.

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  11. Extraction and Purification of Single Nuclei from Frozen Human Brain Tissue.Methods in molecular biology (Clifton, N.J.) · 2023
    Article
  12. Article
  13. Somatic mosaicism in the diseased brain.Molecular cytogenetics · 2022
    Review
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors at 2 institutions in 1 country.

Suzanne RohrbackSanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037.ORCID 0000-0001-6435-1262
Craig AprilApplied Genomics Tools, Research and Technology Development, Illumina Inc., San Diego, CA 92122.
Fiona KaperApplied Genomics Tools, Research and Technology Development, Illumina Inc., San Diego, CA 92122.
Richard R RiveraSanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037.
Christine S LiuSanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037.ORCID 0000-0002-1239-4612
Benjamin SiddowaySanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037.ORCID 0000-0002-3430-4892
Jerold ChunSanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037; jchun@sbpdiscovery.org.
Sanford Burnham Prebys Medical Discovery Institute · USIllumina (United States) · US

Funding

GRADUATE TRAINING IN CELLULAR &MOLECULAR PHARMACOLOGYT32GM007752 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI BROWN, JOAN HELLER, HANDEL, TRACY M · 1985 to 2023
$13.5M
Mechanisms and consequences of CNS aneuploidies altered by fetal ethanol exposureR01AA021402 · NIAAA · SCRIPPS RESEARCH INSTITUTE, THE · PI CHUN, JEROLD · 2013 to 2017
$1.9M
NIAAA NIH HHS R01 AA021402NIGMS NIH HHS T32 GM007752
6 · The paper itself

Abstract

Somatic copy number variations (CNVs) exist in the brain, but their genesis, prevalence, forms, and biological impact remain unclear, even within experimentally tractable animal models. We combined a transposase-based amplification (TbA) methodology for single-cell whole-genome sequencing with a bioinformatic approach for filtering unreliable CNVs (FUnC), developed from machine learning trained on lymphocyte V(D)J recombination. TbA-FUnC offered superior genomic coverage and removed >90% of false-positive CNV calls, allowing extensive examination of submegabase CNVs from over 500 cells throughout the neurogenic period of cerebral cortical development in

Indexed as

DNA Copy Number VariationsGene Expression Regulation, DevelopmentalAnimalsCerebral CortexEmbryo, MammalianGenomeGenomicsMiceMice, Inbred C57BLNeurogenesisSingle-Cell AnalysisWhole Genome Sequencingbrain developmentCNVgenomic mosaicismmachine learningsingle-cell sequencing

Identifiers

PMID30262650
PMCPMC6196524
OpenAlexW2893096870

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.