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Volume 15 Supplement 4

SNP-SIG 2013: Identification and annotation of genetic variants in the context of structure, function, and disease


Edited by Yana Bromberg and Emidio Capriotti

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. Articles have undergone the journal's standard peer review process for supplements. The Supplement Editors declare that they have no competing interests.

SNP-SIG 2013: Identification and annotation of genetic variants in the context of structure, function, and disease. Go to conference site.

Berlin, Germany19 July 2013

  1. Missense pharmacogenomic (PGx) variants refer to amino acid substitutions that potentially affect the pharmacokinetic (PK) or pharmacodynamic (PD) response to drug therapies. The PGx variants, as compared to d...

    Authors: Biao Li, Chet Seligman, Janita Thusberg, Jackson L Miller, Jim Auer, Michelle Whirl-Carrillo, Emidio Capriotti, Teri E Klein and Sean D Mooney
    Citation: BMC Genomics 2014 15(Suppl 4):S4
  2. Genome wide association studies (GWAS) have revealed a large number of links between genome variation and complex disease. Among other benefits, it is expected that these insights will lead to new therapeutic ...

    Authors: Chen Cao and John Moult
    Citation: BMC Genomics 2014 15(Suppl 4):S5
  3. The rapid growth of un-annotated missense variants poses challenges requiring novel strategies for their interpretation. From the thermodynamic point of view, amino acid changes can lead to a change in the int...

    Authors: Manuel Giollo, Alberto JM Martin, Ian Walsh, Carlo Ferrari and Silvio CE Tosatto
    Citation: BMC Genomics 2014 15(Suppl 4):S7
  4. Next Generation Sequencing (NGS) of whole exomes or genomes is increasingly being used in human genetic research and diagnostics. Sharing NGS data with third parties can help physicians and researchers to iden...

    Authors: Björn Stade, Dominik Seelow, Ingo Thomsen, Michael Krawczak and Andre Franke
    Citation: BMC Genomics 2014 15(Suppl 4):S8
  5. Reference-free SNP detection, that is identifying SNPs between samples directly from comparison of primary sequencing data with other primary sequencing data and not to a pre-assembled reference genome is an e...

    Authors: Richard M Leggett and Dan MacLean
    Citation: BMC Genomics 2014 15(Suppl 4):S10
  6. Inflammation has significant roles in all phases of tumor development, including initiation, progression and metastasis. Interleukin-10 (IL-10) is a well-known immuno-modulatory cytokine with an anti-inflammat...

    Authors: Ece Saliha Acuner-Ozbabacan, Billur Hatice Engin, Emine Guven-Maiorov, Guray Kuzu, Serena Muratcioglu, Alper Baspinar, Zhong Chen, Carter Van Waes, Attila Gursoy, Ozlem Keskin and Ruth Nussinov
    Citation: BMC Genomics 2014 15(Suppl 4):S2

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