Found: 7
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DNAseq Workflow in a Diagnostic Context and an Example of a User Friendly Implementation.
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- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/403497
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- Article
VarioML framework for comprehensive variation data representation and exchange.
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- BMC Bioinformatics, 2012, v. 13, n. 1, p. 254, doi. 10.1186/1471-2105-13-254
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- Publication type:
- Article
A comprehensive method protocol for annotation and integrated functional understanding of lncRNAs.
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- Briefings in Bioinformatics, 2020, v. 21, n. 4, p. 1391, doi. 10.1093/bib/bbz066
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- Article
Cafe Variome: General-Purpose Software for Making Genotype-Phenotype Data Discoverable in Restricted or Open Access Contexts.
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- Human Mutation, 2015, v. 36, n. 10, p. 957, doi. 10.1002/humu.22841
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- Article
Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.
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- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101752
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- Article
Non-Coding RNAs in Lung Cancer: Contribution of Bioinformatics Analysis to the Development of Non-Invasive Diagnostic Tools.
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- Genes, 2017, v. 8, n. 1, p. 8, doi. 10.3390/genes8010008
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- Publication type:
- Article
Whole-Genome Sequencing Identified New Structural Variations in the DMD Gene That Cause Duchenne Muscular Dystrophy in Two Girls.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 17, p. 13567, doi. 10.3390/ijms241713567
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- Article