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, USA

14 May 2012

  1. Research

    Identifying Mendelian disease genes with the Variant Effect Scoring Tool

    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...

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

    BMC Genomics 2013 14(Suppl 3):S3

    Published on: 28 May 2013

  2. Research

    WS-SNPs&GO: a web server for predicting the deleterious effect of human protein variants using functional annotation

    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)....

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

    BMC Genomics 2013 14(Suppl 3):S6

    Published on: 28 May 2013

  3. Research

    Multiscale modeling of the causal functional roles of nsSNPs in a genome-wide association study: application to hypoxia

    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...

    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

    BMC Genomics 2013 14(Suppl 3):S9

    Published on: 28 May 2013

  4. Research

    GWIS - model-free, fast and exhaustive search for epistatic interactions in case-control GWAS

    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 ...

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

    BMC Genomics 2013 14(Suppl 3):S10

    Published on: 28 May 2013

  5. Research

    Pathway analysis of genome-wide data improves warfarin dose prediction

    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...

    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…

    BMC Genomics 2013 14(Suppl 3):S11

    Published on: 28 May 2013

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