ArticleDNA research : an international journal for rapid publication of reports on genes and genomes2010
Mutation@A Glance: an integrative web application for analysing mutations from human genetic diseases.
Article in DNA research : an international journal for rapid publication of reports on genes and genomes, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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
13 citing papers in PubMed.
- Genetic variants inThe Libyan journal of medicine · 2025Article
- The complex etiology of autism spectrum disorder due to missense mutations of CHD8.Molecular psychiatry · 2024Article
- Germline mutations of B-Raf proto-oncogene and pathological implications in prostate cancer: observational study.Annals of medicine and surgery (2012) · 2023Article
- Mutational pattern of PIK3CA exon 20 in circulating DNA in breast cancer.Saudi journal of biological sciences · 2022Article
- Role of GATA3 exon 6 germline mutations in breast cancer progression in Egyptian female patients.Experimental biology and medicine (Maywood, N.J.) · 2021Article
- Genetic testing of Mucopolysaccharidoses disease using multiplex PCR- based panels of STR markers: in silico analysis of novel mutations.Metabolic brain disease · 2019Article
- Decoding disease-causing mechanisms of missense mutations from supramolecular structures.Scientific reports · 2017Article
- VaProS: a database-integration approach for protein/genome information retrieval.Journal of structural and functional genomics · 2016Article
- GJB2 mutations in deaf population of Ilam (Western Iran): a different pattern of mutation distribution.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2016Article
- Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.Genetics research · 2015Observational
- Rapid detection of intracellular p47phox and p67phox by flow cytometry; useful screening tests for chronic granulomatous disease.Journal of clinical immunology · 2013Article
- Chapter 15: disease gene prioritization.PLoS computational biology · 2013Article
- Human protein reference database and human proteinpedia as discovery resources for molecular biotechnology.Molecular biotechnology · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although mutation analysis serves as a key part in making a definitive diagnosis about a genetic disease, it still remains a time-consuming step to interpret their biological implications through integration of various lines of archived information about genes in question. To expedite this evaluation step of disease-causing genetic variations, here we developed Mutation@A Glance (http://rapid.rcai.riken.jp/mutation/), a highly integrated web-based analysis tool for analysing human disease mutations; it implements a user-friendly graphical interface to visualize about 40,000 known disease-associated mutations and genetic polymorphisms from more than 2600 protein-coding human disease-causing genes. Mutation@A Glance locates already known genetic variation data individually on the nucleotide and the amino acid sequences and makes it possible to cross-reference them with tertiary and/or quaternary protein structures and various functional features associated with specific amino acid residues in the proteins. We showed that the disease-associated missense mutations had a stronger tendency to reside in positions relevant to the structure/function of proteins than neutral genetic variations. From a practical viewpoint, Mutation@A Glance could certainly function as a 'one-stop' analysis platform for newly determined DNA sequences, which enables us to readily identify and evaluate new genetic variations by integrating multiple lines of information about the disease-causing candidate genes.
Indexed as
Identifiers
What OpenQuestion holds
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.