Edited by Emidio Capriotti, Yana Bromberg and Hannah Carter
Volume 17 Supplement 2
Proceedings of VarI-SIG 2015: Identification and annotation of genetic variants in the context of structure, function, and disease
Research
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. The articles have undergone the journal's standard peer review process for supplements. The Supplement Editors declare that they have no competing interests.
Dublin, Ireland11/07/2015
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Citation: BMC Genomics 2016 17(Suppl 2):425
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VarElect: the phenotype-based variation prioritizer of the GeneCards Suite
Next generation sequencing (NGS) provides a key technology for deciphering the genetic underpinnings of human diseases. Typical NGS analyses of a patient depict tens of thousands non-reference coding variants,...
Citation: BMC Genomics 2016 17(Suppl 2):444 -
KinMutRF: a random forest classifier of sequence variants in the human protein kinase superfamily
The association between aberrant signal processing by protein kinases and human diseases such as cancer was established long time ago. However, understanding the link between sequence variants in the protein k...
Citation: BMC Genomics 2016 17(Suppl 2):396 -
Establishing and validating regulatory regions for variant annotation and expression analysis
The regulatory effect of inherited or de novo genetic variants occurring in promoters as well as in transcribed or even coding gene regions is gaining greater recognition as a contributing factor to disease proce...
Citation: BMC Genomics 2016 17(Suppl 2):393 -
A loss of function variant in CASP7 protects against Alzheimer’s disease in homozygous APOE ε4 allele carriers
Alzheimer’s disease (AD) represents the most common form of dementia in elder populations with approximately 30 million cases worldwide. Genome wide genotyping and sequencing studies have identified many genet...
Citation: BMC Genomics 2016 17(Suppl 2):445 -
Large scale analysis of protein stability in OMIM disease related human protein variants
Modern genomic techniques allow to associate several Mendelian human diseases to single residue variations in different proteins. Molecular mechanisms explaining the relationship among genotype and phenotype a...
Citation: BMC Genomics 2016 17(Suppl 2):397 -
Hotspot mutations delineating diverse mutational signatures and biological utilities across cancer types
An important step towards personalizing cancer treatment is to integrate heterogeneous evidences to catalog mutational hotspots that are biologically and therapeutically relevant and thus represent where targe...
Citation: BMC Genomics 2016 17(Suppl 2):394 -
Negative selection maintains transcription factor binding motifs in human cancer
Somatic mutations in cancer cells affect various genomic elements disrupting important cell functions. In particular, mutations in DNA binding sites recognized by transcription factors can alter regulator bind...
Citation: BMC Genomics 2016 17(Suppl 2):395
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