Evidence map›Paper›PMID 30417254›Full record

ArticleHuman genetics2018

RNA sequencing-based transcriptomic profiles of embryonic lens development for cataract gene discovery.

Deepti Anand, Atul Kakrana, Archana D Siddam, Hongzhan Huang, Irfan Saadi, Salil A Lachke

Abstract read
In one paragraph

Article in Human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed, 3 pooled it
1.6field-weighted citation impact, top 16% of its field
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

32 citing papers in PubMed, 3 syntheses or guidelines pooled it, 38 citations in OpenAlex.

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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

6 authors at 2 institutions in 1 country.

Deepti AnandDepartment of Biological Sciences, University of Delaware, 105 The Green, Delaware Avenue, 236 Wolf Hall, Newark, DE, 19716, USA.
Atul KakranaCenter for Bioinformatics and Computational Biology, University of Delaware, Newark, DE, 19716, USA.
Archana D SiddamDepartment of Biological Sciences, University of Delaware, 105 The Green, Delaware Avenue, 236 Wolf Hall, Newark, DE, 19716, USA.
Hongzhan HuangCenter for Bioinformatics and Computational Biology, University of Delaware, Newark, DE, 19716, USA.
Irfan SaadiDepartment of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS, 66160, USA.
Salil A LachkeDepartment of Biological Sciences, University of Delaware, 105 The Green, Delaware Avenue, 236 Wolf Hall, Newark, DE, 19716, USA. salil@udel.edu.ORCID http://orcid.org/0000-0001-8845-010X
University of Delaware · USUniversity of Kansas Medical Center · US

Funding

Transgenic and Gener-Targeting CoreP20GM104936 · NIGMS · UNIVERSITY OF KANSAS MEDICAL CENTER · PI SAADI, IRFAN · 2012 to 2016
$10.9M
Using PCORnet to Expand the DS-CONNECT Cohort Through Healthcare System Recruitment, Incorporating Electronic Health Records, and Assessing Self-DeterminationU54HD090216 · NICHD · UNIVERSITY OF KANSAS LAWRENCE · PI MC CARSON, KENNETH E · 2016 to 2020
$6.2M
Participant Recruitment and ManagementP30DC005803 · NIDCD · UNIVERSITY OF KANSAS LAWRENCE · PI RICE, MABEL L · 2002 to 2016
$5.8M
POST TRANSCRIPTIONAL CONTROL OF GENE EXPRESSION IN THE LENS (LENS GENE EXPRESSIONR01EY021505 · NEI · WASHINGTON UNIVERSITY · PI LACHKE, SALIL · 2011 to 2024
$5.3M
The Role of SPECC1L cytoskeletal protein in craniofacial development and malformationR01DE026172 · NIDCR · UNIVERSITY OF KANSAS MEDICAL CENTER · PI SAADI, IRFAN · 2016 to 2020
$1.9M
A web-based craniofacial disease gene discovery toolR03DE024776 · NIDCR · UNIVERSITY OF DELAWARE · PI LACHKE, SALIL · 2015 to 2016
$475k
NEI NIH HHS R01 EY021505NEI NIH HHS R01EY021505NICHD NIH HHS U54 HD090216NIDCD NIH HHS P30 DC005803NIDCR NIH HHS R01 DE026172NIDCR NIH HHS R03 DE024776NIDCR NIH HHS R03DE024776NIGMS NIH HHS P20 GM104936
6 · The paper itself

Abstract

Isolated or syndromic congenital cataracts are heterogeneous developmental defects, making the identification of the associated genes challenging. In the past, mouse lens expression microarrays have been successfully applied in bioinformatics tools (e.g., iSyTE) to facilitate human cataract-associated gene discovery. To develop a new resource for geneticists, we report high-throughput RNA sequencing (RNA-seq) profiles of mouse lens at key embryonic stages (E)10.5 (lens pit), E12.5 (primary fiber cell differentiation), E14.5 and E16.5 (secondary fiber cell differentiation). These stages capture important events as the lens develops from an invaginating placode into a transparent tissue. Previously, in silico whole-embryo body (WB)-subtraction-based "lens-enriched" expression has been effective in prioritizing cataract-linked genes. To apply an analogous approach, we generated new mouse WB RNA-seq datasets and show that in silico WB subtraction of lens RNA-seq datasets successfully identifies key genes based on lens-enriched expression. At ≥2 counts-per-million expression, ≥1.5 log

Indexed as

AnimalsCataractCell DifferentiationComputational BiologyEmbryonic DevelopmentGene Expression RegulationGenetic Association StudiesGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansLens, CrystallineMiceSequence Analysis, RNA

Identifiers

PMID30417254
PMCPMC6342005
OpenAlexW2899996034

What OpenQuestion holds

Textmetadata
LicenceTDM
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.