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Volume 17 Supplement 2

Proceedings of VarI-SIG 2015: Identification and annotation of genetic variants in the context of structure, function, and disease


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.

Dublin, Ireland11/07/2015

Edited by Emidio Capriotti, Yana Bromberg and Hannah Carter

  1. Next generation sequencing (NGS) provides a key technology for deciphering the genetic underpinnings of human diseases. Typical NGS analyses of a patient depict tens of thousands non-reference coding variants,...

    Authors: Gil Stelzer, Inbar Plaschkes, Danit Oz-Levi, Anna Alkelai, Tsviya Olender, Shahar Zimmerman, Michal Twik, Frida Belinky, Simon Fishilevich, Ron Nudel, Yaron Guan-Golan, David Warshawsky, Dvir Dahary, Asher Kohn, Yaron Mazor, Sergey Kaplan…
    Citation: BMC Genomics 2016 17(Suppl 2):444
  2. The association between aberrant signal processing by protein kinases and human diseases such as cancer was established long time ago. However, understanding the link between sequence variants in the protein k...

    Authors: Tirso Pons, Miguel Vazquez, María Luisa Matey-Hernandez, Søren Brunak, Alfonso Valencia and Jose MG Izarzugaza
    Citation: BMC Genomics 2016 17(Suppl 2):396
  3. The regulatory effect of inherited or de novo genetic variants occurring in promoters as well as in transcribed or even coding gene regions is gaining greater recognition as a contributing factor to disease proce...

    Authors: Alexander Kaplun, Mathias Krull, Karthick Lakshman, Volker Matys, Birgit Lewicki and Jennifer D. Hogan
    Citation: BMC Genomics 2016 17(Suppl 2):393
  4. Alzheimer’s disease (AD) represents the most common form of dementia in elder populations with approximately 30 million cases worldwide. Genome wide genotyping and sequencing studies have identified many genet...

    Authors: Kristin L. Ayers, Uyenlinh L. Mirshahi, Amr H. Wardeh, Michael F. Murray, Ke Hao, Benjamin S. Glicksberg, Shuyu Li, David J. Carey and Rong Chen
    Citation: BMC Genomics 2016 17(Suppl 2):445
  5. Modern genomic techniques allow to associate several Mendelian human diseases to single residue variations in different proteins. Molecular mechanisms explaining the relationship among genotype and phenotype a...

    Authors: Pier Luigi Martelli, Piero Fariselli, Castrense Savojardo, Giulia Babbi, Francesco Aggazio and Rita Casadio
    Citation: BMC Genomics 2016 17(Suppl 2):397
  6. An important step towards personalizing cancer treatment is to integrate heterogeneous evidences to catalog mutational hotspots that are biologically and therapeutically relevant and thus represent where targe...

    Authors: Tenghui Chen, Zixing Wang, Wanding Zhou, Zechen Chong, Funda Meric-Bernstam, Gordon B. Mills and Ken Chen
    Citation: BMC Genomics 2016 17(Suppl 2):394
  7. Somatic mutations in cancer cells affect various genomic elements disrupting important cell functions. In particular, mutations in DNA binding sites recognized by transcription factors can alter regulator bind...

    Authors: Ilya E. Vorontsov, Grigory Khimulya, Elena N. Lukianova, Daria D. Nikolaeva, Irina A. Eliseeva, Ivan V. Kulakovskiy and Vsevolod J. Makeev
    Citation: BMC Genomics 2016 17(Suppl 2):395

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