Evidence map›Paper›PMID 29106416›Full record

ArticleNature genetics2017

Bayesian inference of negative and positive selection in human cancers.

Donate Weghorn, Shamil Sunyaev

Abstract read
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In one paragraph

Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers.

0numbers the graph read from it
0cells of the map it votes in
78citing papers in PubMed
4.4field-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

78 citing papers in PubMed, 136 citations in OpenAlex.

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18 more citing papers are in PubMed but not listed here.

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

2 authors at 1 institution in 1 country.

Donate WeghornDepartment of Medicine, Division of Genetics, Brigham and Women's Hospital/Harvard Medical School, Boston, Massachusetts, USA.ORCID http://orcid.org/0000-0001-7722-8618
Shamil SunyaevDepartment of Medicine, Division of Genetics, Brigham and Women's Hospital/Harvard Medical School, Boston, Massachusetts, USA.ORCID http://orcid.org/0000-0001-5715-5677
Brigham and Women's Hospital · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cancer genomics efforts have identified genes and regulatory elements driving cancer development and neoplastic progression. From a microevolution standpoint, these are subject to positive selection. Although elusive in current studies, genes whose wild-type coding sequences are needed for tumor growth are also of key interest. They are expected to experience negative selection and stay intact under pressure of incessant mutation. The detection of significantly mutated (or undermutated) genes is completely confounded by the genomic heterogeneity of cancer mutation. Here we present a hierarchical framework that allows modeling of coding point mutations. Application of the model to sequencing data from 17 cancer types demonstrates an increased power to detect known cancer driver genes and identifies new significantly mutated genes with highly plausible biological functions. The signal of negative selection is very subtle, but is detectable in several cancer types and in a pan-cancer data set. It is enriched in cell-essential genes identified in a CRISPR screen, as well as in genes with reported roles in cancer.

Indexed as

Bayes TheoremMutationSelection, GeneticDNA Mutational AnalysisGenetic Predisposition to DiseaseGenomicsHumansNeoplasmsOpen Reading FramesReproducibility of ResultsSensitivity and Specificity

Identifiers

PMID29106416
OpenAlexW2767399544

What OpenQuestion holds

Textmetadata
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.