Evidence map›Paper›PMID 27846907›Full record

ArticleGenome medicine2016

Copy number analysis by low coverage whole genome sequencing using ultra low-input DNA from formalin-fixed paraffin embedded tumor tissue.

Tanjina Kader, David L Goode, Stephen Q Wong, Jacquie Connaughton, Simone M Rowley, Lisa Devereux, David Byrne, Stephen B Fox, Gisela Mir Arnau, Richard W Tothill and 2 more

Open access · goldAbstract read
In one paragraph

Article in Genome medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed
1.6field-weighted citation impact, top 18% 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

31 citing papers in PubMed, 55 citations in OpenAlex.

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  8. Low-coverage whole-genome sequencing for differentiating cervical cancer from cervical intraepithelial neoplasia and benign diseases.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2025
    Article
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  11. Oral cancer prediction by noninvasive genetic screening.International journal of cancer · 2023
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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

12 authors at 2 institutions in 1 country.

Tanjina KaderCancer Genetics Laboratory, Peter MacCallum Cancer Centre, 305 Grattan St, Melbourne, VIC, Australia.
David L GoodeThe Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia.
Stephen Q WongMolecular Biomarkers and Translational Genomics Laboratory, Peter MacCallum Cancer Centre, 305 Grattan St, Melbourne, VIC, Australia.
Jacquie ConnaughtonCancer Genetics Laboratory, Peter MacCallum Cancer Centre, 305 Grattan St, Melbourne, VIC, Australia.
Simone M RowleyCancer Genetics Laboratory, Peter MacCallum Cancer Centre, 305 Grattan St, Melbourne, VIC, Australia.
Lisa DevereuxLifePool, Peter MacCallum Cancer Centre, 305 Grattan St, Melbourne, VIC, Australia.
David ByrnePathology, Peter MacCallum Cancer Centre, 305 Grattan St, Melbourne, VIC, Australia.
Stephen B FoxPathology, Peter MacCallum Cancer Centre, 305 Grattan St, Melbourne, VIC, Australia.
Gisela Mir ArnauMolecular Genomics Core Facility, Peter MacCallum Cancer Centre, 305 Grattan St, Melbourne, VIC, Australia.
Richard W TothillThe Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia.
Ian G CampbellCancer Genetics Laboratory, Peter MacCallum Cancer Centre, 305 Grattan St, Melbourne, VIC, Australia.
Kylie L GorringeCancer Genetics Laboratory, Peter MacCallum Cancer Centre, 305 Grattan St, Melbourne, VIC, Australia. kylie.gorringe@petermac.org.
Peter MacCallum Cancer Centre · AUUniversity of Melbourne · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Unlocking clinically translatable genomic information, including copy number alterations (CNA), from formalin-fixed paraffin-embedded (FFPE) tissue is challenging due to low yields and degraded DNA. We describe a robust, cost-effective low-coverage whole genome sequencing (LC WGS) method for CNA detection using 5 ng of FFPE-derived DNA. CN profiles using 100 ng or 5 ng input DNA were highly concordant and comparable with molecular inversion probe (MIP) array profiles. LC WGS improved CN profiles of samples that performed poorly using MIP arrays. Our technique enables identification of driver and prognostic CNAs in archival patient samples previously deemed unsuitable for genomic analysis due to DNA limitations.

Indexed as

Gene DosageBreast NeoplasmsCarcinoma, Merkel CellCell Line, TumorCohort StudiesCost-Benefit AnalysisDNADNA Copy Number VariationsDNA RepairFemaleFormaldehydeGene LibraryGenome, HumanGenomicsHigh-Throughput Nucleotide SequencingHumansDNAFormaldehydeParaffinCopy numberFormalin-fixed paraffin-embedded (FFPE)Low coverage whole genome sequencing (LC WGS)Low-input DNANext generation sequencing

Identifiers

PMID27846907
PMCPMC5111221
OpenAlexW2553574650

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.