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BMC Genomics publishes selected collections of research articles, conference proceedings, reviews and reports as supplements, which are free to access online. All articles published in supplements are subject to peer review; meeting abstracts undergo review and selection by the conference. Find out more about publishing a supplement with BioMed Central.

Volume 14 Supplement 3

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

Research and reviews

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

Long Beach, CA, USA

14 May 2012

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.

Conference website

Introduction   Open Access

Thoughts from SNP-SIG 2012: future challenges in the annotation of genetic variations

Yana Bromberg, Emidio Capriotti BMC Genomics 2013, 14(Suppl 3):S1 (28 May 2013)

Full text | PDF | ePUB | PubMed

Research   Open Access

Collective judgment predicts disease-associated single nucleotide variants

Emidio Capriotti, Russ B Altman, Yana Bromberg BMC Genomics 2013, 14(Suppl 3):S2 (28 May 2013)

Abstract | Full text | PDF | ePUB | PubMed

Research   Open Access

Identifying Mendelian disease genes with the Variant Effect Scoring Tool

Hannah Carter, Christopher Douville, Peter D Stenson, David N Cooper, Rachel Karchin BMC Genomics 2013, 14(Suppl 3):S3 (28 May 2013)

Abstract | Full text | PDF | ePUB | PubMed

Research   Open Access

The SAAP pipeline and database: tools to analyze the impact and predict the pathogenicity of mutations

Nouf S Al-Numair, Andrew CR Martin BMC Genomics 2013, 14(Suppl 3):S4 (28 May 2013)

Abstract | Full text | PDF | ePUB | PubMed

Research   Open Access

A protein domain-centric approach for the comparative analysis of human and yeast phenotypically relevant mutations

Thomas A Peterson, DoHwan Park, Maricel G Kann BMC Genomics 2013, 14(Suppl 3):S5 (28 May 2013)

Abstract | Full text | PDF | ePUB | PubMed

Research   Open Access

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

Emidio Capriotti, Remo Calabrese, Piero Fariselli, Pier Luigi Martelli, Russ B Altman, Rita Casadio BMC Genomics 2013, 14(Suppl 3):S6 (28 May 2013)

Abstract | Full text | PDF | ePUB | PubMed | Cited on BioMed Central

Research   Open Access

Assessment of computational methods for predicting the effects of missense mutations in human cancers

Florian Gnad, Albion Baucom, Kiran Mukhyala, Gerard Manning, Zemin Zhang BMC Genomics 2013, 14(Suppl 3):S7 (28 May 2013)

Abstract | Full text | PDF | ePUB | PubMed

Research   Open Access

Revealing selection in cancer using the predicted functional impact of cancer mutations. Application to nomination of cancer drivers

B Reva BMC Genomics 2013, 14(Suppl 3):S8 (28 May 2013)

Abstract | Full text | PDF | ePUB | PubMed

Research   Open Access

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

Li Xie, Clara Ng, Thahmina Ali, Raoul Valencia, Barbara L Ferreira, Vincent Xue, Maliha Tanweer, Dan Zhou, Gabriel G Haddad, Philip E Bourne, Lei Xie BMC Genomics 2013, 14(Suppl 3):S9 (28 May 2013)

Abstract | Full text | PDF | ePUB | PubMed

Research   Open Access

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

Benjamin Goudey, David Rawlinson, Qiao Wang, Fan Shi, Herman Ferra, Richard M Campbell, Linda Stern, Michael T Inouye, Cheng Soon Ong, Adam Kowalczyk BMC Genomics 2013, 14(Suppl 3):S10 (28 May 2013)

Abstract | Full text | PDF | ePUB | PubMed

Research   Open Access

Pathway analysis of genome-wide data improves warfarin dose prediction

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, Russ B Altman BMC Genomics 2013, 14(Suppl 3):S11 (28 May 2013)

Abstract | Full text | PDF | ePUB | PubMed


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