Evidence map›Paper›PMID 32796005›Full record

ArticleGenome research2020

Somatic structural variation targets neurodevelopmental genes and identifies

Gonzalo Lopez, Karina L Conkrite, Miriam Doepner, Komal S Rathi, Apexa Modi, Zalman Vaksman, Lance M Farra, Eric Hyson, Moataz Noureddine, Jun S Wei and 8 more

Registry-linked trialOpen access · bronzeAbstract read
In one paragraph

Article in Genome research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06502210 (Identification of New Gene Spliceosomes in Neuroblastoma and Their Translational Application in Clinical Accurate Diagnosis and Therapy), which is not on this map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
–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.

NCT06502210 unknown statusnot on this mapstarted 2024, after this paper: background citation

Identification of New Gene Spliceosomes in Neuroblastoma and Their Translational Application in Clinical Accurate Diagnosis and Therapy

Typeobservational_patient_registrySponsorAffiliated Hospital of Nantong UniversityRan2024 to 2024Enrolled20ConditionsNeuroblastomaArmsPersonalized surgical therapy of neuroblastoma
3 · Its place in the literature

Who cites it

23 citing papers in PubMed, 31 citations in OpenAlex.

  1. Article
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  11. bioRxiv : the preprint server for biology · 2023
    Article
  12. Article
  13. Genetic Analysis Implicates Dysregulation ofInternational journal of environmental research and public health · 2022
    Article
  14. Chromosome 11q loss andFrontiers in oncology · 2022
    Article
  15. Review
  16. Article
  17. Review
  18. Article
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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

18 authors at 3 institutions in 1 country.

Gonzalo Lopez *Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.ORCID 0000-0002-5092-1284
Karina L Conkrite *Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.ORCID 0000-0002-2064-6947
Miriam DoepnerDivision of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.ORCID 0000-0002-9736-2651
Komal S RathiDepartment of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Apexa ModiDivision of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.ORCID 0000-0001-8343-598X
Zalman VaksmanDivision of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Lance M FarraDivision of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Eric HysonDivision of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Moataz NoureddineDivision of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Jun S WeiOncogenomics Section, Genetics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA.ORCID 0000-0002-4812-0250
Malcolm A SmithCancer Therapy Evaluation Program, National Cancer Institute, Bethesda, Maryland 20892, USA.
Shahab AsgharzadehDivision of Hematology, Oncology and Blood and Marrow Transplantation, Keck School of Medicine of the University of Southern California, Los Angeles, California 90033, USA.
Robert C SeegerDivision of Hematology, Oncology and Blood and Marrow Transplantation, Keck School of Medicine of the University of Southern California, Los Angeles, California 90033, USA.
Javed KhanOncogenomics Section, Genetics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA.
Jaime Guidry AuvilOffice of Cancer Genomics, National Cancer Institute, Bethesda, Maryland 20892, USA.
Daniela S GerhardOffice of Cancer Genomics, National Cancer Institute, Bethesda, Maryland 20892, USA.
John M MarisDivision of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Sharon J DiskinDivision of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Children's Hospital of Philadelphia · USNational Cancer Institute · USUniversity of Southern California · US

Funding

COG FOREIGN ACCRUALU10CA098543 · NCI · NATIONAL CHILDHOOD CANCER FOUNDATION · PI ADAMSON, PETER C. · 2003 to 2013
$335.5M
Penn Dermatology Research Training ProgramT32AR007465 · NIAMS · UNIVERSITY OF PENNSYLVANIA · PI Elizabeth Anne Grice, David Joel Margolis · 1986 to 2026
$9.0M
Discovering mechanisms of neuroblastoma tumorigenesis to improve patient outcomesR35CA220500 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI JOHN M MARIS · 2017 to 2026
$8.7M
The Genetic Basis of Neuroblastoma TumorigenesisR01CA124709 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI MARIS, JOHN M · 2008 to 2017
$6.3M
Structural Variation in NeuroblastomaR01CA204974 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI DISKIN, SHARON · 2016 to 2020
$1.9M
CCR NIH HHS HHSN261200800001CNCI NIH HHS HHSN261200800001ENCI NIH HHS R01 CA124709NCI NIH HHS R01 CA204974NCI NIH HHS R35 CA220500NCI NIH HHS U10 CA098543NIAMS NIH HHS T32 AR007465
6 · The paper itself

Abstract

Neuroblastoma is a malignancy of the developing sympathetic nervous system that accounts for 12% of childhood cancer deaths. Like many childhood cancers, neuroblastoma shows a relative paucity of somatic single-nucleotide variants (SNVs) and small insertions and deletions (indels) compared to adult cancers. Here, we assessed the contribution of somatic structural variation (SV) in neuroblastoma using a combination of whole-genome sequencing (WGS) of tumor-normal pairs (

Indexed as

Genes, Tumor SuppressorGenomic Structural VariationCell Line, TumorChromothripsisCohort StudiesDNA BreaksDNA Copy Number VariationsFemaleHumansMaleNerve Tissue ProteinsNeuroblastomaNeurogenesisN-Myc Proto-Oncogene ProteinPolymorphism, Single NucleotideQuantitative Trait LociMYCN protein, humanNerve Tissue ProteinsN-Myc Proto-Oncogene ProteinRNA, NeoplasmSHANK2 protein, humanTelomeraseTERT protein, human

Identifiers

PMID32796005
PMCPMC7545140
OpenAlexW3048983466

What OpenQuestion holds

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Registered trials

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.