Volume 16 Supplement 8
Edited by Emidio Capriotti and Yana Bromberg
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.
VarI-SIG 2014: Identification and annotation of genetic variants in the context of structure, function and disease. Go to conference site.
Boston, MA, USA12 July 2014
Image from Gnad et al. BMC Genomics 2015, 16(Suppl 8):S5.
Elucidating the effects of naturally occurring genetic variation is one of the major challenges for personalized health and personalized medicine. Here, we introduce SNAP2, a novel neural network based classif...
A vast amount of DNA variation is being identified by increasingly large-scale exome and genome sequencing projects. To be useful, variants require accurate functional annotation and a wide range of tools are ...
The invention of high throughput sequencing technologies has led to the discoveries of hundreds of thousands of genetic variants associated with thousands of human diseases. Many of these genetic variants are ...
There are now over 2000 loci in the human genome where genome wide association studies (GWAS) have found one or more SNPs to be associated with altered risk of a complex trait disease. At each of these loci, t...
Many cancer cells show distorted epigenetic landscapes. The Cancer Genome Atlas (TCGA) project profiles thousands of tumors, allowing the discovery of somatic alterations in the epigenetic machinery and the id...
Enrichment analysis is a widely applied procedure for shedding light on the molecular mechanisms and functions at the basis of phenotypes, for enlarging the dataset of possibly related genes/proteins and for h...
The recent improvement of the high-throughput sequencing technologies is having a strong impact on the detection of genetic variations associated with cancer. Several institutions worldwide have been sequencin...
Over the past 50,000 years, shifts in human-environmental or human-human interactions shaped genetic differences within and among human populations, including variants under positive selection. Shaped by envir...
The genetic structure of human populations is extraordinarily complex and of fundamental importance to studies of anthropology, evolution, and medicine. As increasingly many individuals are of mixed origin, th...
2022 Citation Impact
4.4 - 2-year Impact Factor
4.7 - 5-year Impact Factor
1.189 - SNIP (Source Normalized Impact per Paper)
1.107 - SJR (SCImago Journal Rank)
2023 Speed
23 days submission to first editorial decision for all manuscripts (Median)
137 days submission to accept (Median)
2023 Usage
7,167,242 downloads
4,454 Altmetric mentions