Evidence map›Paper›PMID 33383480›Full record

ReviewCurrent opinion in genetics & development2021

Allele-specific expression: applications in cancer and technical considerations.

Carla Daniela Robles-Espinoza, Pejman Mohammadi, Ximena Bonilla, Maria Gutierrez-Arcelus

Open access · hybridAbstract readReview
In one paragraph

Review in Current opinion in genetics & development, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.

0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed
1.1field-weighted citation impact, top 24% 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

29 citing papers in PubMed, 40 citations in OpenAlex.

  1. Article
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  3. Modulation ofInternational journal of molecular sciences · 2026
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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

4 authors at 4 institutions in 4 countries.

Carla Daniela Robles-EspinozaLaboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Campus Juriquilla, Boulevard Juriquilla 3001, Santiago de Querétaro 76230, Mexico; Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
Pejman MohammadiDepartment of Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, CA, USA; Scripps Translational Science Institute, The Scripps Research Institute, La Jolla, CA, USA.
Ximena BonillaDepartment of Computer Science, ETH Zurich, Universitätsstr. 6, 8092 Zürich, Switzerland; Swiss Institute of Bioinformatics, Quartier Sorge - Bâtiment Amphipôle, Lausanne 1015, Switzerland; University Hospital Zurich, Rämistrasse 100, 8091 Zürich, Switzerland.
Maria Gutierrez-ArcelusCenter for Data Sciences, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA; Division of Rheumatology, Inflammation and Immunity, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA; Division of Immunology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. Electronic address: mgutierr@broadinstitute.org.
Broad Institute · USScripps Research Institute · USSIB Swiss Institute of Bioinformatics · CHWellcome Sanger Institute · GB

Funding

Scripps Translational Science InstituteUL1TR002550 · NCATS · SCRIPPS RESEARCH INSTITUTE, THE · PI TOPOL, ERIC JEFFREY · 2018 to 2022
$28.9M
Haplotype-aware models of gene and isoform expression with application to genetic studies of disease in diverse populationsR01GM140287 · NIGMS · SEATTLE CHILDREN'S HOSPITAL · PI GAMAZON, ERIC R, MOHAMMADI, PEJMAN · 2021 to 2024
$2.8M
Medical Research Council MR/S01473X/1NCATS NIH HHS UL1 TR002550NIGMS NIH HHS R01 GM140287Wellcome Trust
6 · The paper itself

Abstract

Allele-specific gene expression can influence disease traits. Non-coding germline genetic variants that alter regulatory elements can cause allele-specific gene expression and contribute to cancer susceptibility. In tumors, both somatic copy number alterations and somatic single nucleotide variants have been shown to lead to allele-specific expression of genes, many of which are considered drivers of tumor growth. Here, we review recent studies revealing the pervasive presence of this phenomenon in cancer susceptibility and progression. Furthermore, we underscore the importance of careful experimental design and computational analysis for accurate allelic expression quantification and avoidance of false positives. Finally, we discuss additional methodological challenges encountered in cancer studies and in the burgeoning field of single-cell transcriptomics.

Indexed as

Genetic Predisposition to DiseaseAllelesComputational BiologyDNA Copy Number VariationsGene Expression Regulation, NeoplasticGenome-Wide Association StudyGerm-Line MutationHumansNeoplasmsPolymorphism, Single NucleotideRegulatory Sequences, Nucleic Acid

Identifiers

PMID33383480
PMCPMC7985293
OpenAlexW3116380299

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.