Evidence map›Paper›PMID 33173897›Full record

ArticlemedRxiv : the preprint server for health sciences2020

gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization.

Tonya Di Sera, Matt Velinder, Alistair Ward, Yi Qiao, Stephanie Georges, Chase Miller, Anders Pitman, Will Richards, Aditya Ekawade, David Viskochil and 7 more

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Emerging concepts in the science of vaccine adjuvants.Nature reviews. Drug discovery · 2021
    Review
  2. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

17 authors.

Tonya Di Sera
Matt Velinder
Alistair Ward
Yi Qiao
Stephanie Georges
Chase Miller
Anders Pitman
Will Richards
Aditya Ekawade
David Viskochil
John C Carey
Laura Pace
Jim Bale
Stacey L Clardy
Ashley Andrews
Lorenzo Botto
Gabor Marth

Funding

Enhancing clinical diagnostic analysis with a robust de novo mutation detection toolR01HG012286 · NHGRI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Gabor T Marth, MARTIN TRISTANI-FIROUZI · 2022 to 2026
$4.7M
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
IOBIO based, distributed genomic data access, management, visualization, and analysisR44HG009096 · NHGRI · FRAMESHIFT LABS, INC. · PI MARTH, GABOR T, MILLER, CHASE · 2018 to 2019
$2.0M
Empowering real-time, web-based genomic big data analysis at commercial scale.R41HG009096 · NHGRI · FRAMESHIFT LABS, INC. · PI MARTH, GABOR T, MILLER, CHASE · 2016 to 2017
$275k
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
Novel iobio analysis supporting genome scale data quality control.R43HG009868 · NHGRI · FRAMESHIFT LABS, INC. · PI MARTH, GABOR T, MILLER, CHASE · 2017 to 2017
$250k
NHGRI NIH HHS R01 HG009000NHGRI NIH HHS R01 HG009712NHGRI NIH HHS R01 HG012286NHGRI NIH HHS R41 HG009096NHGRI NIH HHS R41 HG009629NHGRI NIH HHS R43 HG009868NHGRI NIH HHS R44 HG009096
6 · The paper itself

Abstract

With increasing utilization of comprehensive genomic data to guide clinical care, anticipated to become the standard of care in many clinical settings, the practice of diagnostic medicine is undergoing a notable shift. However, the move from single-gene or panel-based genetic testing to exome and genome sequencing has not been matched by the development of tools to enable diagnosticians to interpret increasingly complex genomic findings. A new paradigm has emerged, where genome-based tests are often evaluated by a large multi-disciplinary collaborative team, typically including a diagnostic pathologist, a bioinformatician, a genetic counselor, and often a subspeciality clinician. This team-based approach calls for new computational tools to allow every member of the clinical care provider team, at varying levels of genetic knowledge and diagnostic expertise, to quickly and easily analyze and interpret complex genomic data. Here, we present

Identifiers

PMID33173897
PMCPMC7654889

What OpenQuestion holds

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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.