Volume 15 Supplement 4
SNP-SIG 2013: Identification and annotation of genetic variants in the context of structure, function, and disease
Research
Edited by Yana Bromberg and Emidio Capriotti
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. Articles have undergone the journal's standard peer review process for supplements. The Supplement Editors declare that they have no competing interests.
SNP-SIG 2013: Identification and annotation of genetic variants in the context of structure, function, and disease. Go to conference site.
Berlin, Germany19 July 2013
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Citation: BMC Genomics 2014 15(Suppl 4):S1
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High burden of private mutations due to explosive human population growth and purifying selection
Recent studies have shown that human populations have experienced a complex demographic history, including a recent epoch of rapid population growth that led to an excess in the proportion of rare genetic vari...
Citation: BMC Genomics 2014 15(Suppl 4):S3 -
In silico comparative characterization of pharmacogenomic missense variants
Missense pharmacogenomic (PGx) variants refer to amino acid substitutions that potentially affect the pharmacokinetic (PK) or pharmacodynamic (PD) response to drug therapies. The PGx variants, as compared to d...
Citation: BMC Genomics 2014 15(Suppl 4):S4 -
GWAS and drug targets
Genome wide association studies (GWAS) have revealed a large number of links between genome variation and complex disease. Among other benefits, it is expected that these insights will lead to new therapeutic ...
Citation: BMC Genomics 2014 15(Suppl 4):S5 -
Feature-based multiple models improve classification of mutation-induced stability changes
Reliable prediction of stability changes in protein variants is an important aspect of computational protein design. A number of machine learning methods that allow a classification of stability changes knowin...
Citation: BMC Genomics 2014 15(Suppl 4):S6 -
NeEMO: a method using residue interaction networks to improve prediction of protein stability upon mutation
The rapid growth of un-annotated missense variants poses challenges requiring novel strategies for their interpretation. From the thermodynamic point of view, amino acid changes can lead to a change in the int...
Citation: BMC Genomics 2014 15(Suppl 4):S7 -
GrabBlur - a framework to facilitate the secure exchange of whole-exome and -genome SNV data using VCF files
Next Generation Sequencing (NGS) of whole exomes or genomes is increasingly being used in human genetic research and diagnostics. Sharing NGS data with third parties can help physicians and researchers to iden...
Citation: BMC Genomics 2014 15(Suppl 4):S8 -
Visualization of nucleotide substitutions in the (micro)transcriptome
RNA-related applications of the next-generation sequencing (NGS) technologies require context-specific interpretations: e.g., sequence mismatches may indicate sites of RNA editing, or uneven read coverage ofte...
Citation: BMC Genomics 2014 15(Suppl 4):S9 -
Reference-free SNP detection: dealing with the data deluge
Reference-free SNP detection, that is identifying SNPs between samples directly from comparison of primary sequencing data with other primary sequencing data and not to a pre-assembled reference genome is an e...
Citation: BMC Genomics 2014 15(Suppl 4):S10 -
The structural network of Interleukin-10 and its implications in inflammation and cancer
Inflammation has significant roles in all phases of tumor development, including initiation, progression and metastasis. Interleukin-10 (IL-10) is a well-known immuno-modulatory cytokine with an anti-inflammat...
Citation: BMC Genomics 2014 15(Suppl 4):S2
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Journal Impact Factor: 3.5
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Source Normalized Impact per Paper (SNIP): 1.083
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