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Volume 20 Supplement 8

Proceedings of VarI-COSI 2018: 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.

Chicago, IL, USA08 July 2018

Conference website

Edited by Emidio Capriotti, Yana Bromberg and Hannah Carter

Related articles have been published as a supplement to BMC Bioinformatics and BMC Medical Genomics.

  1. Short-read resequencing of genomes produces abundant information of the genetic variation of individuals. Due to their numerous nature, these variants are rarely exhaustively validated. Furthermore, low levels...

    Authors: Matthew A. Field, Gaetan Burgio, Aaron Chuah, Jalila Al Shekaili, Batool Hassan, Nashat Al Sukaiti, Simon J. Foote, Matthew C. Cook and T. Daniel Andrews

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    Content type: Research

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  2. By definition, effect of synonymous single-nucleotide variants (SNVs) on protein folding and function are neutral, as they alter the codon and not the encoded amino acid. Recent examples indicate tissue-specif...

    Authors: Christine Polte, Daniel Wedemeyer, Kathryn E. Oliver, Johannes Wagner, Marcel J. C. Bijvelds, John Mahoney, Hugo R. de Jonge, Eric J. Sorscher and Zoya Ignatova

    Citation: BMC Genomics 2019 20(Suppl 8):549

    Content type: Research

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  3. With the continuing decrease in cost of whole genome sequencing (WGS), we have already approached the point of inflection where WGS testing has become economically feasible, facilitating broader access to the ...

    Authors: Nir Neerman, Gregory Faust, Naomi Meeks, Shira Modai, Limor Kalfon, Tzipora Falik-Zaccai and Alexander Kaplun

    Citation: BMC Genomics 2019 20(Suppl 8):545

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