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Volume 16 Supplement 8

VarI-SIG 2014: Identification and annotation of genetic variants in the context of structure, function and disease


Edited by Emidio Capriotti and Yana Bromberg

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.

VarI-SIG 2014: Identification and annotation of genetic variants in the context of structure, function and disease. Go to conference site.

Boston, MA, USA12 July 2014

Image from Gnad et al. BMC Genomics 2015, 16(Suppl 8):S5.

  1. Elucidating the effects of naturally occurring genetic variation is one of the major challenges for personalized health and personalized medicine. Here, we introduce SNAP2, a novel neural network based classif...

    Authors: Maximilian Hecht, Yana Bromberg and Burkhard Rost
    Citation: BMC Genomics 2015 16(Suppl 8):S1
  2. A vast amount of DNA variation is being identified by increasingly large-scale exome and genome sequencing projects. To be useful, variants require accurate functional annotation and a wide range of tools are ...

    Authors: Adam Frankish, Barbara Uszczynska, Graham RS Ritchie, Jose M Gonzalez, Dmitri Pervouchine, Robert Petryszak, Jonathan M Mudge, Nuno Fonseca, Alvis Brazma, Roderic Guigo and Jennifer Harrow
    Citation: BMC Genomics 2015 16(Suppl 8):S2
  3. The invention of high throughput sequencing technologies has led to the discoveries of hundreds of thousands of genetic variants associated with thousands of human diseases. Many of these genetic variants are ...

    Authors: Meng Ma, Ying Ru, Ling-Shiang Chuang, Nai-Yun Hsu, Li-Song Shi, Jörg Hakenberg, Wei-Yi Cheng, Andrew Uzilov, Wei Ding, Benjamin S Glicksberg and Rong Chen
    Citation: BMC Genomics 2015 16(Suppl 8):S3
  4. Many cancer cells show distorted epigenetic landscapes. The Cancer Genome Atlas (TCGA) project profiles thousands of tumors, allowing the discovery of somatic alterations in the epigenetic machinery and the id...

    Authors: Florian Gnad, Sophia Doll, Gerard Manning, David Arnott and Zemin Zhang
    Citation: BMC Genomics 2015 16(Suppl 8):S5
  5. Enrichment analysis is a widely applied procedure for shedding light on the molecular mechanisms and functions at the basis of phenotypes, for enlarging the dataset of possibly related genes/proteins and for h...

    Authors: Pietro Di Lena, Pier Luigi Martelli, Piero Fariselli and Rita Casadio
    Citation: BMC Genomics 2015 16(Suppl 8):S6
  6. Over the past 50,000 years, shifts in human-environmental or human-human interactions shaped genetic differences within and among human populations, including variants under positive selection. Shaped by envir...

    Authors: Samuel K Handelman, Michal Seweryn, Ryan M Smith, Katherine Hartmann, Danxin Wang, Maciej Pietrzak, Andrew D Johnson, Andrzej Kloczkowski and Wolfgang Sadee
    Citation: BMC Genomics 2015 16(Suppl 8):S8
  7. The genetic structure of human populations is extraordinarily complex and of fundamental importance to studies of anthropology, evolution, and medicine. As increasingly many individuals are of mixed origin, th...

    Authors: Konstantin Kozlov, Dmitri Chebotarev, Mehedi Hassan, Martin Triska, Petr Triska, Pavel Flegontov and Tatiana V Tatarinova
    Citation: BMC Genomics 2015 16(Suppl 8):S9

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