Search Results - "Atlan, David"

Whole-Genome Sequencing Identified New Structural Variations in the DMD Gene That Cause Duchenne Muscular Dystrophy in Two Girls by Pluta, Natalie, von Moers, Arpad, Pechmann, Astrid, Stenzel, Werner, Goebel, Hans-Hilmar, Atlan, David, Wolf, Beat, Nanda, Indrajit, Zaum, Ann-Kathrin, Rost, Simone

“…Dystrophinopathies are the most common muscle diseases, especially in men. In women, on the other hand, a manifestation of Duchenne muscular dystrophy is rare…”
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Non-Coding RNAs in Lung Cancer: Contribution of Bioinformatics Analysis to the Development of Non-Invasive Diagnostic Tools by Kunz, Meik, Wolf, Beat, Schulze, Harald, Atlan, David, Walles, Thorsten, Walles, Heike, Dandekar, Thomas

“…Lung cancer is currently the leading cause of cancer related mortality due to late diagnosis and limited treatment intervention. Non-coding RNAs are not…”
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VarioML framework for comprehensive variation data representation and exchange by Byrne, Myles, Fokkema, Ivo Fac, Lancaster, Owen, Adamusiak, Tomasz, Ahonen-Bishopp, Anni, Atlan, David, Béroud, Christophe, Cornell, Michael, Dalgleish, Raymond, Devereau, Andrew, Patrinos, George P, Swertz, Morris A, Taschner, Peter Em, Thorisson, Gudmundur A, Vihinen, Mauno, Brookes, Anthony J, Muilu, Juha

“…Sharing of data about variation and the associated phenotypes is a critical need, yet variant information can be arbitrarily complex, making a single standard…”
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Whole-Genome Sequencing Identified New Structural Variations in the IDMD/I Gene That Cause Duchenne Muscular Dystrophy in Two Girls by Pluta, Natalie, von Moers, Arpad, Pechmann, Astrid, Stenzel, Werner, Goebel, Hans-Hilmar, Atlan, David, Wolf, Beat, Nanda, Indrajit, Zaum, Ann-Kathrin, Rost, Simone

“…Dystrophinopathies are the most common muscle diseases, especially in men. In women, on the other hand, a manifestation of Duchenne muscular dystrophy is rare…”
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Cafe Variome: General-Purpose Software for Making Genotype-Phenotype Data Discoverable in Restricted or Open Access Contexts by Lancaster, Owen, Beck, Tim, Atlan, David, Swertz, Morris, Thangavelu, Dhiwagaran, Veal, Colin, Dalgleish, Raymond, Brookes, Anthony J

“…ABSTRACT Biomedical data sharing is desirable, but problematic. Data “discovery” approaches—which establish the existence rather than the substance of…”
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DNAseq Workflow in a Diagnostic Context and an Example of a User Friendly Implementation by Atlan, David, Dandekar, Thomas, Kuonen, Pierre, Wolf, Beat

“…Over recent years next generation sequencing (NGS) technologies evolved from costly tools used by very few, to a much more accessible and economically viable…”
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A comprehensive method protocol for annotation and integrated functional understanding of lncRNAs by Kunz, Meik, Wolf, Beat, Fuchs, Maximilian, Christoph, Jan, Xiao, Ke, Thum, Thomas, Atlan, David, Prokosch, Hans-Ulrich, Dandekar, Thomas

“…Abstract Long non-coding RNAs (lncRNAs) are of fundamental biological importance; however, their functional role is often unclear or loosely defined as…”
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Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy by Pluta, Natalie, Hoffjan, Sabine, Zimmer, Frederic, Köhler, Cornelia, Lücke, Thomas, Mohr, Jennifer, Vorgerd, Matthias, Nguyen, Hoa Huu Phuc, Atlan, David, Wolf, Beat, Zaum, Ann-Kathrin, Rost, Simone

“…New techniques in molecular genetic diagnostics now allow for accurate diagnosis in a large proportion of patients with muscular diseases. Nevertheless, many…”
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Towards an Integrated Platform for Big Data Analysis by Bohlouli, Mahdi, Schulz, Frank, Angelis, Lefteris, Pahor, David, Brandic, Ivona, Atlan, David, Tate, Rosemary

“…The amount of data in the world is expanding rapidly. Every day, huge amounts of data are created by scientific experiments, companies, and end users'…”
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