Evidence map›Paper›PMID 29707261›Full record

ArticleJournal of clinical and translational science2017

Rapid clinical diagnostic variant investigation of genomic patient sequencing data with

Alistair Ward, Mary A Karren, Tonya Di Sera, Chase Miller, Matt Velinder, Yi Qiao, Francis M Filloux, Betsy Ostrander, Russell Butterfield, Joshua L Bonkowsky and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of clinical and translational science, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Article
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  5. 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

12 authors.

Alistair WardDepartment of Human Genetics, USTAR Center for Genetic Discovery, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
Mary A KarrenDepartment of Human Genetics, USTAR Center for Genetic Discovery, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
Tonya Di SeraDepartment of Human Genetics, USTAR Center for Genetic Discovery, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
Chase MillerDepartment of Human Genetics, USTAR Center for Genetic Discovery, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
Matt VelinderDepartment of Human Genetics, USTAR Center for Genetic Discovery, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
Yi QiaoDepartment of Human Genetics, USTAR Center for Genetic Discovery, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
Francis M FillouxDepartment of Pediatrics, Division of Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
Betsy OstranderDepartment of Pediatrics, Division of Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
Russell ButterfieldDepartment of Pediatrics, Division of Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
Joshua L BonkowskyDepartment of Pediatrics, Division of Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
Willard DereDepartment of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
Gabor T MarthDepartment of Human Genetics, USTAR Center for Genetic Discovery, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.

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
Robust Software Tools for Variant Identification and Functional AssessmentU01HG006513 · NHGRI · UNIVERSITY OF UTAH · PI ABECASIS, GONCALO, MARTH, GABOR T · 2012 to 2015
$4.2M
Monitoring tumor subclonal heterogeneity over time and spaceU24CA209999 · NCI · UNIVERSITY OF UTAH · PI MARTH, GABOR T, QUINLAN, AARON R · 2016 to 2020
$3.9M
IOBIO: Web-based, interactive tools for real-time analysis in genomic big dataR01HG009000 · NHGRI · UNIVERSITY OF UTAH · PI MARTH, GABOR T · 2017 to 2020
$2.9M
Web tools for physician-driven diagnostic interpretation of genomic patient dataR01HG009712 · NHGRI · UNIVERSITY OF UTAH · PI MARTH, GABOR T, TRISTANI-FIROUZI, MARTIN · 2017 to 2020
$2.8M
Trans-Cellular Activation of Transcription to Analyze Dopaminergic Axon ReorganizDP2MH100008 · NIMH · UNIVERSITY OF UTAH · PI BONKOWSKY, JOSH LEITCH · 2012 to 2012
$2.2M
Visually-driven disease variant analysis empowering real-time clinical research.R41HG009629 · NHGRI · FRAMESHIFT LABS, INC. · PI MARTH, GABOR T, MILLER, CHASE · 2017 to 2017
$256k
NCATS NIH HHS UL1 TR001067NCI NIH HHS U24 CA209999NHGRI NIH HHS R01 HG009000NHGRI NIH HHS R01 HG009712NHGRI NIH HHS R41 HG009629NHGRI NIH HHS U01 HG006513NIMH NIH HHS DP2 MH100008
6 · The paper itself

Abstract

introductionComputational analysis of genome or exome sequences may improve inherited disease diagnosis, but is costly and time-consuming.

methodsWe describe the use of

resultsWe used

conclusions

Indexed as

clinical diagnostic variant analysisdisease variant identificationearly infantile epileptic encephalopathyGenome sequencingweb-based data analysis

Identifiers

PMID29707261
PMCPMC5915807

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.