Evidence map›Paper›PMID 27270079›Full record

ArticleNucleic acids research2016

FACETS: allele-specific copy number and clonal heterogeneity analysis tool for high-throughput DNA sequencing.

Ronglai Shen, Venkatraman E Seshan

Registry-linked trialAbstract read
In one paragraph

Article in Nucleic acids research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04873427 (In Situ Clonal Heterogeneity in Prostatic Diagnostic Biopsies), which is not on this map. Cited by 858 papers.

0numbers the graph read from it
0cells of the map it votes in
858citing 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.

NCT04873427 terminatednot on this mapstarted 2021, after this paper: background citation

In Situ Clonal Heterogeneity in Prostatic Diagnostic Biopsies: Impact on Prostate Cancer Evolution and Clinical Outcome. A Retrospective, Proof of Concept Study

TypeobservationalSponsorClinica Luganese MoncuccoRan2021 to 2023Enrolled40ConditionsProstate Cancer, Genetic PredispositionArmsclonal heterogeneity evaluation
3 · Its place in the literature

Who cites it

858 citing papers in PubMed.

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  3. A Phase II Trial of Olaparib plus Pembrolizumab in Patients with Recurrent Copy Number-High/p53-Abnormal Endometrial Cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026
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  11. Patritumab deruxtecan in HRNature medicine · 2025
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  12. Genomic and Epigenomic ctDNA Profiling in Liquid Biopsies from Heavily Pretreated Patients with DNA Damage Response-Deficient Tumors.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025
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798 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.

Ronglai ShenDepartment of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY 10065, USA shenr@mskcc.org.
Venkatraman E SeshanDepartment of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY 10065, USA seshanv@mskcc.org.

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
The Role of Focal Oncogene Amplifications in Lung CancerP01CA129243 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI Piro Lito · 2007 to 2026
$31.2M
Statistical Strategies for Establishing Etiologic Heterogeneity of TumorsR01CA163251 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI BEGG, COLIN B · 2012 to 2015
$1.5M
Defining a novel subtype of luminal-TP53 mutant breast cancer with poor prognosisR21CA195365 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI REIS-FILHO, JORGE, SHEN, RONGLAI · 2015 to 2016
$421k
NCI NIH HHS P01 CA129243NCI NIH HHS P30 CA008748NCI NIH HHS R01 CA163251NCI NIH HHS R21 CA195365
6 · The paper itself

Abstract

Allele-specific copy number analysis (ASCN) from next generation sequencing (NGS) data can greatly extend the utility of NGS beyond the identification of mutations to precisely annotate the genome for the detection of homozygous/heterozygous deletions, copy-neutral loss-of-heterozygosity (LOH), allele-specific gains/amplifications. In addition, as targeted gene panels are increasingly used in clinical sequencing studies for the detection of 'actionable' mutations and copy number alterations to guide treatment decisions, accurate, tumor purity-, ploidy- and clonal heterogeneity-adjusted integer copy number calls are greatly needed to more reliably interpret NGS-based cancer gene copy number data in the context of clinical sequencing. We developed FACETS, an ASCN tool and open-source software with a broad application to whole genome, whole-exome, as well as targeted panel sequencing platforms. It is a fully integrated stand-alone pipeline that includes sequencing BAM file post-processing, joint segmentation of total- and allele-specific read counts, and integer copy number calls corrected for tumor purity, ploidy and clonal heterogeneity, with comprehensive output and integrated visualization. We demonstrate the application of FACETS using The Cancer Genome Atlas (TCGA) whole-exome sequencing of lung adenocarcinoma samples. We also demonstrate its application to a clinical sequencing platform based on a targeted gene panel.

Indexed as

AlgorithmsAllelesGene DosageGenetic HeterogeneityAdenocarcinomaAdenocarcinoma of LungClone CellsDatabases, Nucleic AcidDNA Copy Number VariationsExomeHigh-Throughput Nucleotide SequencingHumansLoss of HeterozygosityLung NeoplasmsSequence Analysis, DNA

Identifiers

PMID27270079
PMCPMC5027494

What OpenQuestion holds

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LicenceCC BY-NC
Read underepoch 390

Registered trials

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.