Volume 14 Supplement 5
Edited by Haixu Tang, Tao Jiang and Xuegong Zhang
The supplement has not received any external sponsorship, full details can be found in the Declarations of each individual article.
RECOMB-seq: Third Annual Recomb Satellite Workshop on Massively Parallel Sequencing. Go to conference site.
Beijing, China11-12 April 2013
Elevated sequencing error rates are the most predominant obstacle in single-nucleotide polymorphism (SNP) detection, which is a major goal in the bulk of current studies using next-generation sequencing (NGS)....
Citation: BMC Bioinformatics 2013 14(Suppl 5):S1
Environmental shotgun sequencing (ESS) has potential to give greater insight into microbial communities than targeted sequencing of 16S regions, but requires much higher sequence coverage. The advent of next-g...
Citation: BMC Bioinformatics 2013 14(Suppl 5):S2
The joint sequencing of related genomes has become an important means to discover rare variants. Normal-tumor genome pairs are routinely sequenced together to find somatic mutations and their associations with...
Citation: BMC Bioinformatics 2013 14(Suppl 5):S3
New biological techniques and technological advances in high-throughput sequencing are paving the way for systematic, comprehensive annotation of many genomes, allowing differences between cell types or betwee...
Citation: BMC Bioinformatics 2013 14(Suppl 5):S4
Identification of gene-phenotype relationships is a fundamental challenge in human health clinic. Based on the observation that genes causing the same or similar phenotypes tend to correlate with each other in...
Citation: BMC Bioinformatics 2013 14(Suppl 5):S5
Somatically-acquired translocations may serve as important markers for assessing the cause and nature of diseases like cancer. Algorithms to locate translocations may use next-generation sequencing (NGS) platf...
Citation: BMC Bioinformatics 2013 14(Suppl 5):S6
De Bruijn Superwalk with Multiplicities Problem is the problem of finding a walk in the de Bruijn graph containing several walks as subwalks and passing through each edge the exactly predefined number of times...
Citation: BMC Bioinformatics 2013 14(Suppl 5):S7
Read alignment is a computational bottleneck in some sequencing projects. Most of the existing software packages for read alignment are based on two algorithmic approaches: prefix-trees and hash-tables. We pro...
Citation: BMC Bioinformatics 2013 14(Suppl 5):S8
The techniques of next generation sequencing allow an increasing number of draft genomes to be produced rapidly in a decreasing cost. However, these draft genomes usually are just partially sequenced as collec...
Citation: BMC Bioinformatics 2013 14(Suppl 5):S9
DNA methylation profiling reveals important differentially methylated regions (DMRs) of the genome that are altered during development or that are perturbed by disease. To date, few programs exist for regional...
Citation: BMC Bioinformatics 2013 14(Suppl 5):S10
RNA-seq, a next-generation sequencing based method for transcriptome analysis, is rapidly emerging as the method of choice for comprehensive transcript abundance estimation. The accuracy of RNA-seq can be high...
Citation: BMC Bioinformatics 2013 14(Suppl 5):S11
Metagenomic sequencing is becoming a powerful technology for exploring micro-ogranisms from various environments, such as human body, without isolation and cultivation. Accurately identifying genes from metage...
Citation: BMC Bioinformatics 2013 14(Suppl 5):S12
With the remarkable development in inexpensive sequencing technologies and supporting computational tools, we have the promise of medicine being personalized by knowledge of the individual genome. Current tech...
Citation: BMC Bioinformatics 2013 14(Suppl 5):S13
RNA-seq has revolutionized our ability to survey the cellular transcriptome in great detail. However, while several approaches have been developed, the problem of assembling the short reads into full-length tr...
Citation: BMC Bioinformatics 2013 14(Suppl 5):S14
Through transcription and alternative splicing, a gene can be transcribed into different RNA sequences (isoforms), depending on the individual, on the tissue the cell is in, or in response to some stimuli. Rec...
Citation: BMC Bioinformatics 2013 14(Suppl 5):S15
RNA-Seq has become a key technology in transcriptome studies because it can quantify overall expression levels and the degree of alternative splicing for each gene simultaneously. To interpret high-throughout ...
Citation: BMC Bioinformatics 2013 14(Suppl 5):S16
Analysis of population structures and genome local ancestry hasbecome increasingly important in population and disease genetics. With the advance of next generation sequencing technologies, complete genetic va...
Citation: BMC Bioinformatics 2013 14(Suppl 5):S17
We present a framework for the design of optimal assembly algorithms for shotgun sequencing under the criterion of complete reconstruction. We derive a lower bound on the read length and the coverage depth req...
Citation: BMC Bioinformatics 2013 14(Suppl 5):S18
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