Evidence map›Paper›PMID 30864654›Full record

ArticleNucleic acids research2019

Haplotype-resolved and integrated genome analysis of the cancer cell line HepG2.

Bo Zhou, Steve S Ho, Stephanie U Greer, Noah Spies, John M Bell, Xianglong Zhang, Xiaowei Zhu, Joseph G Arthur, Seunggyu Byeon, Reenal Pattni and 8 more

Abstract read
In one paragraph

Article in Nucleic acids research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.

0numbers the graph read from it
0cells of the map it votes in
46citing 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.

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

46 citing papers in PubMed.

  1. Article
  2. Review
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  4. Article
  5. Review
  6. Effects of the Polar Fraction ofInternational journal of molecular sciences · 2025
    Article
  7. Article
  8. Article
  9. Review
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  11. Review
  12. Article
  13. Article
  14. Article
  15. Article
  16. Resolving the 22q11.2 deletion using CTLR-Seq reveals chromosomal rearrangement mechanisms and individual variance in breakpoints.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  17. CRISPR in Nucleic Acids Research: the sequel.Nucleic acids research · 2024
    Article
  18. Article
  19. Article
  20. 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

18 authors.

Bo ZhouDepartment of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA.
Steve S HoDepartment of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA.
Stephanie U GreerDivision of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Noah SpiesDepartment of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
John M BellStanford Genome Technology Center, Stanford University, Palo Alto, CA 94304, USA.
Xianglong ZhangDepartment of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA.
Xiaowei ZhuDepartment of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA.
Joseph G ArthurDepartment of Statistics, Stanford University, Stanford, CA 94305, USA.
Seunggyu ByeonSchool of Computer Science and Engineering, College of Engineering, Pusan National University, Busan 46241, South Korea.
Reenal PattniDepartment of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA.
Ishan SahaDepartment of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Yiling HuangDepartment of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA.
Giltae SongSchool of Computer Science and Engineering, College of Engineering, Pusan National University, Busan 46241, South Korea.
Dimitri PerrinScience and Engineering Faculty, Queensland University of Technology, Brisbane, QLD 4001, Australia.
Wing H WongDepartment of Statistics, Stanford University, Stanford, CA 94305, USA.
Hanlee P JiDivision of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Alexej AbyzovDepartment of Health Sciences Research, Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Alexander E UrbanDepartment of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA.

Funding

Statistical Models for Genome Sequencing and AssociationR01HG006137 · NHGRI · UNIVERSITY OF PENNSYLVANIA · PI JI, HANLEE P, ZHANG, NANCY R · 2011 to 2022
$4.3M
Detection of somatic, subclonal and mosaic CNVs from sequencingU24CA220242 · NCI · MAYO CLINIC ROCHESTER · PI ABYZOV, ALEXEJ · 2018 to 2022
$2.6M
NCI NIH HHS U24 CA220242NHGRI NIH HHS R01 HG006137
6 · The paper itself

Abstract

HepG2 is one of the most widely used human cancer cell lines in biomedical research and one of the main cell lines of ENCODE. Although the functional genomic and epigenomic characteristics of HepG2 are extensively studied, its genome sequence has never been comprehensively analyzed and higher order genomic structural features are largely unknown. The high degree of aneuploidy in HepG2 renders traditional genome variant analysis methods challenging and partially ineffective. Correct and complete interpretation of the extensive functional genomics data from HepG2 requires an understanding of the cell line's genome sequence and genome structure. Using a variety of sequencing and analysis methods, we identified a wide spectrum of genome characteristics in HepG2: copy numbers of chromosomal segments at high resolution, SNVs and Indels (corrected for aneuploidy), regions with loss of heterozygosity, phased haplotypes extending to entire chromosome arms, retrotransposon insertions and structural variants (SVs) including complex and somatic genomic rearrangements. A large number of SVs were phased, sequence assembled and experimentally validated. We re-analyzed published HepG2 datasets for allele-specific expression and DNA methylation and assembled an allele-specific CRISPR/Cas9 targeting map. We demonstrate how deeper insights into genomic regulatory complexity are gained by adopting a genome-integrated framework.

Indexed as

Genome, HumanHaplotypesAllelesAneuploidyChromosome MappingDNA MethylationGenomicsGenomic Structural VariationHep G2 CellsHigh-Throughput Nucleotide SequencingHumansINDEL MutationKaryotypingLoss of HeterozygosityPolymorphism, Single NucleotideRetroelementsRetroelements

Identifiers

PMID30864654
PMCPMC6486628

What OpenQuestion holds

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LicenceCC BY-NC
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.