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Volume 18 Supplement 5

Proceedings of VarI-SIG 2016: identification and annotation of genetic variants in the context of structure, function, and disease: genomics


Publication of this supplement has not been supported by sponsorship. Information about the source of funding for publication charges can be found in the individual articles. The articles have undergone the journal's standard peer review process for supplements. The Supplement Editors declare that they have no competing interests.

Orlando, Florida, USA09 July 2016

Conference website

Edited by Emidio Capriotti, Hannah Carter and Yana Bromberg

Other articles from the conference have been published as a supplement to BMC Biophysics.

  1. Strict guidelines delimit the use of computational information in the clinical setting, due to the still moderate accuracy of in silico tools. These guidelines indicate that several tools should always be used...

    Authors: Elena Álvarez de la Campa, Natàlia Padilla and Xavier de la Cruz
    Citation: BMC Genomics 2017 18(Suppl 5):569
  2. Next-generation sequencing is widely used to identify disease-causing variants in patients with rare genetic disorders. Identifying those variants from whole-genome or exome data can be both scientifically cha...

    Authors: Andreas Krämer, Sohela Shah, Robert Anthony Rebres, Susan Tang and Daniel Rene Richards
    Citation: BMC Genomics 2017 18(Suppl 5):551
  3. Genetic investigations, boosted by modern sequencing techniques, allow dissecting the genetic component of different phenotypic traits. These efforts result in the compilation of lists of genes related to dise...

    Authors: Giulia Babbi, Pier Luigi Martelli, Giuseppe Profiti, Samuele Bovo, Castrense Savojardo and Rita Casadio
    Citation: BMC Genomics 2017 18(Suppl 5):554
  4. Ebolaviruses have been known to cause deadly disease in humans for 40 years and have recently been demonstrated in West Africa to be able to cause large outbreaks. Four Ebolavirus species cause severe disease ass...

    Authors: Morena Pappalardo, Francesca Collu, James Macpherson, Martin Michaelis, Franca Fraternali and Mark N. Wass
    Citation: BMC Genomics 2017 18(Suppl 5):566
  5. Cystinuria is an inherited disease that results in the formation of cystine stones in the kidney, which can have serious health complications. Two genes (SLC7A9 and SLC3A1) that form an amino acid transporter ...

    Authors: Henry J. Martell, Kathie A. Wong, Juan F. Martin, Ziyan Kassam, Kay Thomas and Mark N. Wass
    Citation: BMC Genomics 2017 18(Suppl 5):550

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