Evidence map›Paper›PMID 32728101›Full record

ArticleNature communications2020

Detecting sample swaps in diverse NGS data types using linkage disequilibrium.

Nauman Javed, Yossi Farjoun, Tim J Fennell, Charles B Epstein, Bradley E Bernstein, Noam Shoresh

Abstract read
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 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing 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

16 citing papers in PubMed.

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  9. Whole-genome sequencing study in Koreans identifies novel loci for Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024
    Article
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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

6 authors.

Nauman JavedDepartment of Pathology and Center for Cancer Research, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.
Yossi FarjounBroad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.ORCID http://orcid.org/0000-0002-7002-2868
Tim J FennellBroad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
Charles B EpsteinBroad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.ORCID http://orcid.org/0000-0001-8358-8345
Bradley E BernsteinDepartment of Pathology and Center for Cancer Research, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.ORCID http://orcid.org/0000-0002-5726-6278
Noam ShoreshBroad Institute of MIT and Harvard, Cambridge, MA, 02142, USA. nshoresh@broadinstitute.org.ORCID http://orcid.org/0000-0002-5482-5046

Funding

A Catalog of Cell Types and Genomic Elements in Tissues, Organoids and DiseaseUM1HG009390 · NHGRI · BROAD INSTITUTE, INC. · PI BERNSTEIN, BRADLEY EVAN · 2017 to 2021
$11.0M
NHGRI NIH HHS UM1 HG009390
6 · The paper itself

Abstract

As the number of genomics datasets grows rapidly, sample mislabeling has become a high stakes issue. We present CrosscheckFingerprints (Crosscheck), a tool for quantifying sample-relatedness and detecting incorrectly paired sequencing datasets from different donors. Crosscheck outperforms similar methods and is effective even when data are sparse or from different assays. Application of Crosscheck to 8851 ENCODE ChIP-, RNA-, and DNase-seq datasets enabled us to identify and correct dozens of mislabeled samples and ambiguous metadata annotations, representing ~1% of ENCODE datasets.

Indexed as

High-Throughput Nucleotide SequencingDatabases, Nucleic AcidGenotypeHEK293 CellsHumansHuman Umbilical Vein Endothelial CellsK562 CellsLinkage DisequilibriumLod ScoreMolecular Sequence Annotation

Identifiers

PMID32728101
PMCPMC7391710

What OpenQuestion holds

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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.