ReviewMammalian genome : official journal of the International Mammalian Genome Society2015
Current strategies for mutation detection in phenotype-driven screens utilising next generation sequencing.
Review in Mammalian genome : official journal of the International Mammalian Genome Society, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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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.
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.
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Who cites it
20 citing papers in PubMed, 35 citations in OpenAlex.
- Model selection in preclinical nucleic acid therapeutics research.Communications biology · 2026Review
- Genetic determinants of blood pressure and heart rate identified through ENU-induced mutagenesis with automated meiotic mapping.Science advances · 2024Article
- Use of Zebrafish Models to Boost Research in Rare Genetic Diseases.International journal of molecular sciences · 2021Review
- Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A.Journal of clinical laboratory analysis · 2021Article
- Thousands of induced germline mutations affecting immune cells identified by automated meiotic mapping coupled with machine learning.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Novel Homozygous Pathogenic Mutations of LAMA 2 Gene in Patients with Congen ital Muscular Dystrophy.Iranian journal of child neurology · 2021Article
- Tissue-specific FAH deficiency alters sleep-wake patterns and results in chronic tyrosinemia in mice.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Mouse NC/Jic strain provides novel insights into host genetic factors for malaria research.Experimental animals · 2019Review
- Methodology and theoretical basis of forward genetic screening for sleep/wakefulness in mice.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Beta-binomial modeling of CRISPR pooled screen data identifies target genes with greater sensitivity and fewer false negatives.Genome research · 2019Article
- Transient inhibition of p53 homologs protects ovarian function from two distinct apoptotic pathways triggered by anticancer therapies.Cell death and differentiation · 2019Article
- Optimizing Genomic Methods for Mapping and Identification of Candidate Variants in ENU Mutagenesis Screens Using Inbred Mice.G3 (Bethesda, Md.) · 2018Article
- Identification of Two Novel LAMA2 Mutations in a Chinese Patient with Congenital Muscular Dystrophy.Frontiers in genetics · 2018Article
- Whole exome sequencing reveals a functional mutation in the GAIN domain of the Bai2 receptor underlying a forward mutagenesis hyperactivity QTL.Mammalian genome : official journal of the International Mammalian Genome Society · 2017Article
- CRISPRcloud: a secure cloud-based pipeline for CRISPR pooled screen deconvolution.Bioinformatics (Oxford, England) · 2017Article
- Mouse Genome Informatics (MGI) Resource: Genetic, Genomic, and Biological Knowledgebase for the Laboratory Mouse.ILAR journal · 2017Review
- A perspective ofGenes and environment : the official journal of the Japanese Environmental Mutagen Society · 2017Article
- Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program.PloS one · 2017Article
- Innate immunity and the new forward genetics.Best practice & research. Clinical haematology · 2016Review
- Discovery and Structure-Activity Relationships of the Neoseptins: A New Class of Toll-like Receptor-4 (TLR4) Agonists.Journal of medicinal chemistry · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
Mutagenesis-based screens in mice are a powerful discovery platform to identify novel genes or gene functions associated with disease phenotypes. An N-ethyl-N-nitrosourea (ENU) mutagenesis screen induces single nucleotide variants randomly in the mouse genome. Subsequent phenotyping of mutant and wildtype mice enables the identification of mutated pathways resulting in phenotypes associated with a particular ENU lesion. This unbiased approach to gene discovery conducts the phenotyping with no prior knowledge of the functional mutations. Before the advent of affordable next generation sequencing (NGS), ENU variant identification was a limiting step in gene characterization, akin to 'finding a needle in a haystack'. The emergence of a reliable reference genome alongside advances in NGS has propelled ENU mutation discovery from an arduous, time-consuming exercise to an effective and rapid form of mutation discovery. This has permitted large mouse facilities worldwide to use ENU for novel mutation discovery in a high-throughput manner, helping to accelerate basic science at the mechanistic level. Here, we describe three different strategies used to identify ENU variants from NGS data and some of the subsequent steps for mutation characterisation.
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Registered trials
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.