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
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Content type: Introduction
Authors: Yana Bromberg and Emidio Capriotti
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Content type: Research
In recent years the number of human genetic variants deposited into the publicly available databases has been increasing exponentially. The latest version of dbSNP, for example, contains ~50 million validated ...
Authors: Emidio Capriotti, Russ B Altman and Yana Bromberg
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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
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Content type: Research
Understanding and predicting the effects of mutations on protein structure and phenotype is an increasingly important area. Genes for many genetically linked diseases are now routinely sequenced in the clinic....
Authors: Nouf S Al-Numair and Andrew CR Martin
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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
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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
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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
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Content type: Research
Every malignant tumor has a unique spectrum of genomic alterations including numerous protein mutations. There are also hundreds of personal germline variants to be taken into account. The combinatorial divers...
Authors: B Reva
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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
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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
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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…
