Evidence map›Paper›PMID 39018173›Full record

ArticleBioinformatics (Oxford, England)2024

Genome-wide analysis and visualization of copy number with CNVpytor in igv.js.

Arijit Panda, Milovan Suvakov, Helga Thorvaldsdottir, Jill P Mesirov, James T Robinson, Alexej Abyzov

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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.

Arijit PandaDepartment of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, United States.ORCID 0000-0001-5156-6459
Milovan SuvakovDepartment of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, United States.ORCID 0000-0002-5839-9611
Helga ThorvaldsdottirBroad Institute of MIT and Harvard, Cambridge, MA 02142, United States.
Jill P MesirovDepartment of Medicine, University of California San Diego, La Jolla, CA 92093, United States.
James T RobinsonDepartment of Medicine, University of California San Diego, La Jolla, CA 92093, United States.
Alexej AbyzovDepartment of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, United States.ORCID 0000-0001-5405-6729

Funding

The Integrative Genomics Viewer (IGV) for Cancer ResearchU24CA258406 · NCI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI JILL P. MESIROV, James Thomas Robinson · 2021 to 2026
$5.1M
Detection of somatic, subclonal and mosaic CNVs from sequencingU24CA220242 · NCI · MAYO CLINIC ROCHESTER · PI ABYZOV, ALEXEJ · 2018 to 2022
$2.6M
Hybrid approach for comprehensive mutation detection in a cellUG3NS132128 · NINDS · MAYO CLINIC ROCHESTER · PI ABYZOV, ALEXEJ · 2023 to 2024
$716k
Individualized Medicine at Mayo ClinicNCI NIH HHS U24 CA220242NCI NIH HHS U24CA220242NCI NIH HHS U24 CA258406NINDS NIH HHS UG3 NS132128NINDS NIH HHS UG3NS132128
6 · The paper itself

Abstract

summaryCopy number variation (CNV) and alteration (CNA) analysis is a crucial component in many genomic studies and its applications span from basic research to clinic diagnostics and personalized medicine. CNVpytor is a tool featuring a read depth-based caller and combined read depth and B-allele frequency (BAF) based 2D caller to find CNVs and CNAs. The tool stores processed intermediate data and CNV/CNA calls in a compact HDF5 file-pytor file. Here, we describe a new track in igv.js that utilizes pytor and whole genome variant files as input for on-the-fly read depth and BAF visualization, CNV/CNA calling and analysis. Embedding into HTML pages and Jupiter Notebooks enables convenient remote data access and visualization simplifying interpretation and analysis of omics data. AVAILABILITY AND IMPLEMENTATION: The CNVpytor track is integrated with igv.js and available at https://github.com/igvteam/igv.js. The documentation is available at https://github.com/igvteam/igv.js/wiki/cnvpytor. Usage can be tested in the IGV-Web app at https://igv.org/app and also on https://github.com/abyzovlab/CNVpytor.

Indexed as

DNA Copy Number VariationsGenomicsSoftwareHumans

Identifiers

PMID39018173
PMCPMC11303504

What OpenQuestion holds

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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.