Evidence map›Paper›PMID 31267007›Full record

ArticleScientific reports2019

Single-cell RNA-seq variant analysis for exploration of genetic heterogeneity in cancer.

Erik Fasterius, Mathias Uhlén, Cristina Al-Khalili Szigyarto

Abstract read
In one paragraph

Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed, 1 pooled it
–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

19 citing papers in PubMed, 1 synthesis or guideline pooled it.

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  17. Biomarkers for immunotherapy for treatment of glioblastoma.Journal for immunotherapy of cancer · 2020
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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

3 authors.

Erik FasteriusSchool of Chemistry, Biotechnology and Health, KTH Royal Institute of Technology, Stockholm, Sweden.ORCID http://orcid.org/0000-0003-0492-9960
Mathias UhlénSchool of Chemistry, Biotechnology and Health, KTH Royal Institute of Technology, Stockholm, Sweden.ORCID http://orcid.org/0000-0002-4858-8056
Cristina Al-Khalili SzigyartoSchool of Chemistry, Biotechnology and Health, KTH Royal Institute of Technology, Stockholm, Sweden. caks@kth.se.ORCID http://orcid.org/0000-0001-6990-1905

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Inter- and intra-tumour heterogeneity is caused by genetic and non-genetic factors, leading to severe clinical implications. High-throughput sequencing technologies provide unprecedented tools to analyse DNA and RNA in single cells and explore both genetic heterogeneity and phenotypic variation between cells in tissues and tumours. Simultaneous analysis of both DNA and RNA in the same cell is, however, still in its infancy. We have thus developed a method to extract and analyse information regarding genetic heterogeneity that affects cellular biology from single-cell RNA-seq data. The method enables both comparisons and clustering of cells based on genetic variation in single nucleotide variants, revealing cellular subpopulations corroborated by gene expression-based methods. Furthermore, the results show that lymph node metastases have lower levels of genetic heterogeneity compared to their original tumours with respect to variants affecting protein function. The analysis also revealed three previously unknown variants common across cancer cells in glioblastoma patients. These results demonstrate the power and versatility of scRNA-seq variant analysis and highlight it as a useful complement to already existing methods, enabling simultaneous investigations of both gene expression and genetic variation.

Indexed as

Genetic HeterogeneityCluster AnalysisGlioblastomaHigh-Throughput Nucleotide SequencingHumansNeoplasmsPolymorphism, Single NucleotidePrognosisRNA-SeqRNA, Small CytoplasmicSingle-Cell AnalysisRNA, Small Cytoplasmic

Identifiers

PMID31267007
PMCPMC6606766

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Registered trials

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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.