Evidence map›Paper›PMID 30477545›Full record

ArticleGenome biology2018

GRIPT: a novel case-control analysis method for Mendelian disease gene discovery.

Jun Wang, Li Zhao, Xia Wang, Yong Chen, Mingchu Xu, Zachry T Soens, Zhongqi Ge, Peter Ronghan Wang, Fei Wang, Rui Chen

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genome biology, 2018. 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. Review
  2. 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

10 authors.

Jun WangHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Li ZhaoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Xia WangDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Yong ChenShanghai Key Lab of Intelligent Information Processing, School of Computer Science and Technology, Fudan University, Shanghai, China.
Mingchu XuHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Zachry T SoensHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Zhongqi GeHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Peter Ronghan WangDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Fei WangShanghai Key Lab of Intelligent Information Processing, School of Computer Science and Technology, Fudan University, Shanghai, China.
Rui ChenHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. ruichen@bcm.edu.

Funding

VISION RESEARCH CENTERP30EY002520 · NEI · BAYLOR COLLEGE OF MEDICINE · PI Samuel M Wu · 1985 to 2026
$14.8M
GENETICS OF EARLY ONSET RETINAL DISEASESR01EY018571 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2008 to 2026
$7.2M
PROGRAM IN HUMAN MOLECULAR GENETICST32GM008307 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI SHAULSKY, GAD · 1990 to 2020
$6.6M
Molecular Basis of Human Visual System DisordersR01EY022356 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2012 to 2026
$6.1M
High Throughput Genomic Sequencer at BCM Core FacilityS10OD023469 · OD · BAYLOR COLLEGE OF MEDICINE · PI CHEN, RUI · 2017 to 2017
$600k
NEI NIH HHS EY002520NEI NIH HHS P30 EY002520NEI NIH HHS R01 EY018571NEI NIH HHS R01EY018571NEI NIH HHS R01 EY022356NEI NIH HHS R01EY022356NIGMS NIH HHS T32 GM008307NIH HHS S10 OD023469NIH HHS S10OD023469
6 · The paper itself

Abstract

Despite rapid progress of next-generation sequencing (NGS) technologies, the disease-causing genes underpinning about half of all Mendelian diseases remain elusive. One main challenge is the high genetic heterogeneity of Mendelian diseases in which similar phenotypes are caused by different genes and each gene only accounts for a small proportion of the patients. To overcome this gap, we developed a novel method, the Gene Ranking, Identification and Prediction Tool (GRIPT), for performing case-control analysis of NGS data. Analyses of simulated and real datasets show that GRIPT is well-powered for disease gene discovery, especially for diseases with high locus heterogeneity.

Indexed as

Case-Control StudiesComputer SimulationGenetic Association StudiesGenetic Diseases, InbornHumansInheritance PatternsSensitivity and SpecificityCohort analysisDisease gene prioritizationLocus heterogeneityMendelian diseaseNext-generation sequencing

Identifiers

PMID30477545
PMCPMC6258408

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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.