Evidence map›Paper›PMID 26625158›Full record

ArticlePLoS computational biology2015

Wham: Identifying Structural Variants of Biological Consequence.

Zev N Kronenberg, Edward J Osborne, Kelsey R Cone, Brett J Kennedy, Eric T Domyan, Michael D Shapiro, Nels C Elde, Mark Yandell

Abstract read
In one paragraph

Article in PLoS computational biology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 93 papers.

0numbers the graph read from it
0cells of the map it votes in
93citing 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

93 citing papers in PubMed.

  1. Article
  2. Article
  3. Germline determinants of risk and molecular subtype in young-onset lung cancer.medRxiv : the preprint server for health sciences · 2026
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  4. Review
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  6. Comprehensive analysis ofmedRxiv : the preprint server for health sciences · 2026
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  7. Article
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  9. Review
  10. bioRxiv : the preprint server for biology · 2025
    Article
  11. Article
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  13. CNPI: Rapid Analyses of Human Copy Number Data.Journal of molecular biology · 2025
    Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Pangenome discovery of missing autism variants.medRxiv : the preprint server for health sciences · 2025
    Article
  19. Article
  20. Article

33 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

8 authors.

Zev N KronenbergDepartment of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America.
Edward J OsborneDepartment of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America.
Kelsey R ConeDepartment of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America.
Brett J KennedyDepartment of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America.
Eric T DomyanDepartment of Biology, University of Utah, Salt Lake City, Utah, United States of America.
Michael D ShapiroDepartment of Biology, University of Utah, Salt Lake City, Utah, United States of America.
Nels C EldeDepartment of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America.
Mark YandellDepartment of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America.

Funding

University of Utah Center for Clinical and Translational ScienceUL1TR001067 · NCATS · UNIVERSITY OF UTAH · PI DERE, WILLARD H., HESS, RACHEL · 2013 to 2017
$19.8M
DEVELOPMENTAL BIOLOGY TRAINING PROGRAMT32HD007491 · NICHD · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI James Alan Gagnon, Kristen M Kwan · 1995 to 2026
$8.0M
TRAINING PROGRAM IN GENETICST32GM007464 · NIGMS · UNIVERSITY OF UTAH · PI GRUNWALD, DAVID J., STANFIELD, GILLIAN · 1985 to 2020
$6.1M
Training Program in Microbial PathogenesisT32AI055434 · NIAID · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI MULVEY, MATTHEW A, PLANELLES, VICENTE · 2004 to 2025
$6.0M
VAAST+: Tool for variant prioritization, risk assessment and disease-gene findingR01GM104390 · NIGMS · UNIVERSITY OF UTAH · PI JORDE, LYNN, YANDELL, MARK DOUGLAS · 2013 to 2017
$2.2M
Mechanisms of mimicry underlying the evolution of a model poxvirusR01GM114514 · NIGMS · UNIVERSITY OF UTAH · PI ELDE, NELS C. · 2015 to 2019
$1.6M
Functional activity and inter-organismal interactions in the human microbiomeR01HG005969 · NHGRI · HARVARD SCHOOL OF PUBLIC HEALTH · PI HUTTENHOWER, CURTIS · 2010 to 2012
$1.3M
Developmental and genetic mechanisms of tissue identity and patterningR01GM115996 · NIGMS · UNIVERSITY OF UTAH · PI SHAPIRO, MICHAEL DAVID · 2015 to 2018
$1.2M
University of Utah Center for clinical and Translational ScienceTL1TR001066 · NCATS · UNIVERSITY OF UTAH · PI DERE, WILLARD H., HESS, RACHEL · 2013 to 2017
$558k
Determining the genetic and developmental basis of epidermal appendage evolutionF32GM103077 · NIGMS · UNIVERSITY OF UTAH · PI DOMYAN, ERIC · 2013 to 2014
$102k
NCATS NIH HHS 1TL1TR001066NCATS NIH HHS TL1 TR001066NCATS NIH HHS UL1 TR001067NHGRI NIH HHS R01HG005969NIAID NIH HHS T32 AI055434NIAID NIH HHS T32AI055434NICHD NIH HHS T32 HD007491NICHD NIH HHS T32HD07491NIGMS NIH HHS F32 GM103077NIGMS NIH HHS F32GM103077NIGMS NIH HHS R01 GM104390NIGMS NIH HHS R01 GM114514NIGMS NIH HHS R01GM114514NIGMS NIH HHS R01 GM115996NIGMS NIH HHS R01GM115996NIGMS NIH HHS T32 GM007464NIGMS NIH HHS T32GM07464
6 · The paper itself

Abstract

Existing methods for identifying structural variants (SVs) from short read datasets are inaccurate. This complicates disease-gene identification and efforts to understand the consequences of genetic variation. In response, we have created Wham (Whole-genome Alignment Metrics) to provide a single, integrated framework for both structural variant calling and association testing, thereby bypassing many of the difficulties that currently frustrate attempts to employ SVs in association testing. Here we describe Wham, benchmark it against three other widely used SV identification tools-Lumpy, Delly and SoftSearch-and demonstrate Wham's ability to identify and associate SVs with phenotypes using data from humans, domestic pigeons, and vaccinia virus. Wham and all associated software are covered under the MIT License and can be freely downloaded from github (https://github.com/zeeev/wham), with documentation on a wiki (http://zeeev.github.io/wham/). For community support please post questions to https://www.biostars.org/.

Indexed as

AlgorithmsBase SequenceChromosome MappingGenetic Association StudiesGenetic VariationGenome, HumanGenomic Structural VariationHumansMolecular Sequence DataSoftware

Identifiers

PMID26625158
PMCPMC4666669

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

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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.