Evidence map›Paper›PMID 23299975›Full record

ArticleGenome research2013

MMAPPR: mutation mapping analysis pipeline for pooled RNA-seq.

Jonathon T Hill, Bradley L Demarest, Brent W Bisgrove, Bushra Gorsi, Yi-Chu Su, H Joseph Yost

Open access · bronzeAbstract read
In one paragraph

Article in Genome research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 244 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
244citing papers in PubMed, 1 pooled it
–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

244 citing papers in PubMed, 1 synthesis or guideline pooled it, 484 citations in OpenAlex.

  1. Pooled it
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  4. A terminal deletion in wheat chromosome arm 3BS contains gene YrJ262 conferring adult plant resistance to stripe rust.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2026
    Article
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  18. Two bHLH Transcription Factor GenesPlants (Basel, Switzerland) · 2026
    Article
  19. Review
  20. Article

184 more citing papers are in PubMed but not listed here.

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 1 institution in 1 country.

Jonathon T HillDepartment of Neurobiology and Anatomy, University of Utah Molecular Medicine Program, University of Utah, Salt Lake City, Utah 84112, USA.
Bradley L Demarest
Brent W Bisgrove
Bushra Gorsi
Yi-Chu Su
H Joseph Yost
University of Utah · US

Funding

NHLBI Pediatric Translational Consortium Administrative Coordinating CenterU01HL098188 · NHLBI · NEW ENGLAND RESEARCH INSTITUTES, INC. · PI HAMZA, TAYE, MILLER, JULIE ELAINE · 2009 to 2015
$41.3M
REGULATION AND INTERACTION OF CYTOCHROMES P-450 IN LIVER MICROSOMESZ01HL000981 · NHLBI · HEART, LUNG, AND BLOOD INSTITUTE · PI NAGATA, K · 1985 to 1986
–
NHLBI NIH HHS U01HL0981NHLBI NIH HHS U01 HL098188
6 · The paper itself

Abstract

Forward genetic screens in model organisms are vital for identifying novel genes essential for developmental or disease processes. One drawback of these screens is the labor-intensive and sometimes inconclusive process of mapping the causative mutation. To leverage high-throughput techniques to improve this mapping process, we have developed a Mutation Mapping Analysis Pipeline for Pooled RNA-seq (MMAPPR) that works without parental strain information or requiring a preexisting SNP map of the organism, and adapts to differential recombination frequencies across the genome. MMAPPR accommodates the considerable amount of noise in RNA-seq data sets, calculates allelic frequency by Euclidean distance followed by Loess regression analysis, identifies the region where the mutation lies, and generates a list of putative coding region mutations in the linked genomic segment. MMAPPR can exploit RNA-seq data sets from isolated tissues or whole organisms that are used for gene expression and transcriptome analysis in novel mutants. We tested MMAPPR on two known mutant lines in zebrafish, nkx2.5 and tbx1, and used it to map two novel ENU-induced cardiovascular mutants, with mutations found in the ctr9 and cds2 genes. MMAPPR can be directly applied to other model organisms, such as Drosophila and Caenorhabditis elegans, that are amenable to both forward genetic screens and pooled RNA-seq experiments. Thus, MMAPPR is a rapid, cost-efficient, and highly automated pipeline, available to perform mutant mapping in any organism with a well-assembled genome.

Indexed as

Chromosome MappingMutationSoftwareAllelesAnimalsComputational BiologyEvolution, MolecularGenes, RecessiveInternetPolymorphism, Single NucleotideReproducibility of ResultsRNASelection, GeneticSequence Analysis, RNAZebrafishRNA

Identifiers

PMID23299975
PMCPMC3613585
OpenAlexW2119951970

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.