Evidence map›Paper›PMID 32681003›Full record

ArticleNature communications2020

Using sigLASSO to optimize cancer mutation signatures jointly with sampling likelihood.

Shantao Li, Forrest W Crawford, Mark B Gerstein

Abstract readEvaluation Study
In one paragraph

Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.

0numbers the graph read from it
0cells of the map it votes in
24citing 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

24 citing papers in PubMed.

  1. Mutational signature refitting on sparse pan-cancer data.Algorithms for molecular biology : AMB · 2026
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  12. Cancer driver mutations: predictions and reality.Trends in molecular medicine · 2023
    Review
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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.

Shantao LiProgram in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.ORCID http://orcid.org/0000-0002-5440-2780
Forrest W CrawfordDepartment of Biostatistics, Yale School of Public Health, New Haven, CT, USA.
Mark B GersteinProgram in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA. mark@gersteinlab.org.ORCID http://orcid.org/0000-0002-9746-3719

Funding

Network-based epidemiology for hidden and hard-to-reach populationsDP2HD091799 · NICHD · YALE UNIVERSITY · PI CRAWFORD, FORREST WRENN · 2016 to 2016
$2.5M
Prioritizing rare variants associated with cancer using non-coding annotationR01HG008126 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER · 2016 to 2018
$2.4M
NHGRI NIH HHS R01 HG008126NICHD NIH HHS DP2 HD091799
6 · The paper itself

Abstract

Multiple mutational processes drive carcinogenesis, leaving characteristic signatures in tumor genomes. Determining the active signatures from a full repertoire of potential ones helps elucidate mechanisms of cancer development. This involves optimally decomposing the counts of cancer mutations, tabulated according to their trinucleotide context, into a linear combination of known signatures. Here, we develop sigLASSO (a software tool at github.com/gersteinlab/siglasso) to carry out this optimization efficiently. sigLASSO has four key aspects: (1) It jointly optimizes the likelihood of sampling and signature fitting, by explicitly factoring multinomial sampling into the objective function. This is particularly important when mutation counts are low and sampling variance is high (e.g., in exome sequencing). (2) sigLASSO uses L1 regularization to parsimoniously assign signatures, leading to sparse and interpretable solutions. (3) It fine-tunes model complexity, informed by data scale and biological priors. (4) Consequently, sigLASSO can assess model uncertainty and abstain from making assignments in low-confidence contexts.

Indexed as

MutationComputational BiologyGenome, HumanHumansNeoplasmsProbabilitySoftware

Identifiers

PMID32681003
PMCPMC7368050

What OpenQuestion holds

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LicenceCC BY
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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.