ArticleHuman mutation2013
GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis.
Article in Human mutation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
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.
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.
Who cites it
58 citing papers in PubMed, 76 citations in OpenAlex.
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- Easymap: A User-Friendly Software Package for Rapid Mapping-by-Sequencing of Point Mutations and Large Insertions.Frontiers in plant science · 2021Article
- A negative storage model for precise but compact storage of genetic variation data.Database : the journal of biological databases and curation · 2020Article
- Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks.Nature communications · 2018Article
- GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.Brain : a journal of neurology · 2018Article
- SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.Brain : a journal of neurology · 2018Article
- PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.Clinical genetics · 2017Article
- Matchmaker Exchange.Current protocols in human genetics · 2017Article
- P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.Human molecular genetics · 2017Article
- STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.Orphanet journal of rare diseases · 2017Article
- Genetic screening revealed usher syndrome in a paediatric Chinese patient.Hearing, balance and communication · 2017Article
- TYROBP genetic variants in early-onset Alzheimer's disease.Neurobiology of aging · 2016Article
- A novel missense mutation of CMT2P alters transcription machinery.Annals of neurology · 2016Article
- A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.Annals of neurology · 2016Article
- Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter.Science signaling · 2016Article
- De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.Brain : a journal of neurology · 2016Article
- Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.Nature communications · 2016Article
- From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases.Cold Spring Harbor molecular case studies · 2016Article
- SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.Brain : a journal of neurology · 2016Article
- Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.American journal of human genetics · 2016Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
Novel genes are now identified at a rapid pace for many Mendelian disorders, and increasingly, for genetically complex phenotypes. However, new challenges have also become evident: (1) effectively managing larger exome and/or genome datasets, especially for smaller labs; (2) direct hands-on analysis and contextual interpretation of variant data in large genomic datasets; and (3) many small and medium-sized clinical and research-based investigative teams around the world are generating data that, if combined and shared, will significantly increase the opportunities for the entire community to identify new genes. To address these challenges, we have developed GEnomes Management Application (GEM.app), a software tool to annotate, manage, visualize, and analyze large genomic datasets (https://genomics.med.miami.edu/). GEM.app currently contains ∼1,600 whole exomes from 50 different phenotypes studied by 40 principal investigators from 15 different countries. The focus of GEM.app is on user-friendly analysis for nonbioinformaticians to make next-generation sequencing data directly accessible. Yet, GEM.app provides powerful and flexible filter options, including single family filtering, across family/phenotype queries, nested filtering, and evaluation of segregation in families. In addition, the system is fast, obtaining results within 4 sec across ∼1,200 exomes. We believe that this system will further enhance identification of genetic causes of human disease.
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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.