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Volume 14 Supplement 3

SNP-SIG 2012: Identification and annotation of SNPs in the context of structure, function, and disease

Research and reviews

Edited by Yana Bromberg and Emidio Capriotti

This supplement has not been sponsored. The source of funding used to cover open access publication charges is declared by the authors in each article.

SNP-SIG 2012: Identification and annotation of SNPs in the context of structure, function, and disease. Go to conference site.

Long Beach, CA, USA14 May 2012

  1. Content type: Research

    Whole exome sequencing studies identify hundreds to thousands of rare protein coding variants of ambiguous significance for human health. Computational tools are needed to accelerate the identification of spec...

    Authors: Hannah Carter, Christopher Douville, Peter D Stenson, David N Cooper and Rachel Karchin

    Citation: BMC Genomics 2013 14(Suppl 3):S3

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  2. Content type: Research

    The body of disease mutations with known phenotypic relevance continues to increase and is expected to do so even faster with the advent of new experimental techniques such as whole-genome sequencing coupled w...

    Authors: Thomas A Peterson, DoHwan Park and Maricel G Kann

    Citation: BMC Genomics 2013 14(Suppl 3):S5

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  3. Content type: Research

    SNPs&GO is a method for the prediction of deleterious Single Amino acid Polymorphisms (SAPs) using protein functional annotation. In this work, we present the web server implementation of SNPs&GO (WS-SNPs&GO)....

    Authors: Emidio Capriotti, Remo Calabrese, Piero Fariselli, Pier Luigi Martelli, Russ B Altman and Rita Casadio

    Citation: BMC Genomics 2013 14(Suppl 3):S6

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  4. Content type: Research

    Recent advances in sequencing technologies have greatly increased the identification of mutations in cancer genomes. However, it remains a significant challenge to identify cancer-driving mutations, since most...

    Authors: Florian Gnad, Albion Baucom, Kiran Mukhyala, Gerard Manning and Zemin Zhang

    Citation: BMC Genomics 2013 14(Suppl 3):S7

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  5. Content type: Research

    It is a great challenge of modern biology to determine the functional roles of non-synonymous Single Nucleotide Polymorphisms (nsSNPs) on complex phenotypes. Statistical and machine learning techniques establi...

    Authors: Li Xie, Clara Ng, Thahmina Ali, Raoul Valencia, Barbara L Ferreira, Vincent Xue, Maliha Tanweer, Dan Zhou, Gabriel G Haddad, Philip E Bourne and Lei Xie

    Citation: BMC Genomics 2013 14(Suppl 3):S9

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  6. Content type: Research

    It has been hypothesized that multivariate analysis and systematic detection of epistatic interactions between explanatory genotyping variables may help resolve the problem of "missing heritability" currently ...

    Authors: Benjamin Goudey, David Rawlinson, Qiao Wang, Fan Shi, Herman Ferra, Richard M Campbell, Linda Stern, Michael T Inouye, Cheng Soon Ong and Adam Kowalczyk

    Citation: BMC Genomics 2013 14(Suppl 3):S10

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  7. Content type: Research

    Many genome-wide association studies focus on associating single loci with target phenotypes. However, in the setting of rare variation, accumulating sufficient samples to assess these associations can be diff...

    Authors: Roxana Daneshjou, Nicholas P Tatonetti, Konrad J Karczewski, Hersh Sagreiya, Stephane Bourgeois, Katarzyna Drozda, James K Burmester, Tatsuhiko Tsunoda, Yusuke Nakamura, Michiaki Kubo, Matthew Tector, Nita A Limdi, Larisa H Cavallari, Minoli Perera, Julie A Johnson, Teri E Klein…

    Citation: BMC Genomics 2013 14(Suppl 3):S11

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