Evidence map›Paper›PMID 25706643›Full record

ArticlePloS one2015

Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver.

Phillip H Pham, William J Shipman, Galina A Erikson, Nicholas J Schork, Ali Torkamani

Abstract read
In one paragraph

Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing 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

11 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2017
    Article
  6. Whole genome sequence association and ancestry-informed polygenic profile of EEG alpha in a Native American population.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2017
    Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. 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

5 authors.

Phillip H PhamCypher Genomics, Inc., La Jolla, CA 92037, United States of America.
William J ShipmanScripps Health, La Jolla, CA 92037, United States of America; The Scripps Translational Science Institute, La Jolla, CA 92037, United States of America.
Galina A EriksonScripps Health, La Jolla, CA 92037, United States of America; The Scripps Translational Science Institute, La Jolla, CA 92037, United States of America.
Nicholas J SchorkScripps Health, La Jolla, CA 92037, United States of America; The Scripps Translational Science Institute, La Jolla, CA 92037, United States of America; The Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, United States of America; Cypher Genomics, Inc., La Jolla, CA 92037, United States of America.
Ali TorkamaniScripps Health, La Jolla, CA 92037, United States of America; The Scripps Translational Science Institute, La Jolla, CA 92037, United States of America; The Department of Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, CA 92037, United States of America; Cypher Genomics, Inc., La Jolla, CA 92037, United States of America.

Funding

Systems BiologyU19AG023122 · NIA · TRANSLATIONAL GENOMICS RESEARCH INST · PI JODI A LAPIDUS · 2004 to 2026
$102.6M
SCRIPPS TRANSLATIONAL SCIENCE INSTITUTE (UL1)UL1RR025774 · NCRR · SCRIPPS RESEARCH INSTITUTE, THE · PI TOPOL, ERIC JEFFREY · 2008 to 2011
$16.3M
Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERverU01HG006476 · NHGRI · SCRIPPS HEALTH · PI TORKAMANI, ALI · 2012 to 2015
$1.1M
NCRR NIH HHS 5 UL1 RR025774NCRR NIH HHS UL1 RR025774NHGRI NIH HHS U01 HG006476NIA NIH HHS U19 AG023122
6 · The paper itself

Abstract

Interpretation of human genomes is a major challenge. We present the Scripps Genome ADVISER (SG-ADVISER) suite, which aims to fill the gap between data generation and genome interpretation by performing holistic, in-depth, annotations and functional predictions on all variant types and effects. The SG-ADVISER suite includes a de-identification tool, a variant annotation web-server, and a user interface for inheritance and annotation-based filtration. SG-ADVISER allows users with no bioinformatics expertise to manipulate large volumes of variant data with ease--without the need to download large reference databases, install software, or use a command line interface. SG-ADVISER is freely available at genomics.scripps.edu/ADVISER.

Indexed as

Databases, GeneticGenome, HumanGenomicsComputational BiologyHumansInternetSoftwareUser-Computer Interface

Identifiers

PMID25706643
PMCPMC4338027

What OpenQuestion holds

Textmetadata
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.