A survey of tools for variant analysis of next-generation genome sequencing data
S Pabinger, A Dander, M Fischer… - Briefings in …, 2014 - academic.oup.com
Recent advances in genome sequencing technologies provide unprecedented opportunities
to characterize individual genomic landscapes and identify mutations relevant for diagnosis …
to characterize individual genomic landscapes and identify mutations relevant for diagnosis …
Identifying and mitigating bias in next-generation sequencing methods for chromatin biology
Next-generation sequencing (NGS) technologies have been used in diverse ways to
investigate various aspects of chromatin biology by identifying genomic loci that are bound …
investigate various aspects of chromatin biology by identifying genomic loci that are bound …
RSeQC: quality control of RNA-seq experiments
Motivation: RNA-seq has been extensively used for transcriptome study. Quality control (QC)
is critical to ensure that RNA-seq data are of high quality and suitable for subsequent …
is critical to ensure that RNA-seq data are of high quality and suitable for subsequent …
Differential expression of human tRNA genes drives the abundance of tRNA-derived fragments
AG Torres, O Reina… - Proceedings of the …, 2019 - National Acad Sciences
The human genome encodes hundreds of transfer RNA (tRNA) genes but their individual
contribution to the tRNA pool is not fully understood. Deep sequencing of tRNA transcripts …
contribution to the tRNA pool is not fully understood. Deep sequencing of tRNA transcripts …
Impact of artifact removal on ChIP quality metrics in ChIP-seq and ChIP-exo data
With the advent of ChIP-seq multiplexing technologies and the subsequent increase in ChIP-
seq throughput, the development of working standards for the quality assessment of ChIP …
seq throughput, the development of working standards for the quality assessment of ChIP …
Impact of DNA methylation on 3D genome structure
D Buitrago, M Labrador, JP Arcon, R Lema… - Nature …, 2021 - nature.com
Determining the effect of DNA methylation on chromatin structure and function in higher
organisms is challenging due to the extreme complexity of epigenetic regulation. We studied …
organisms is challenging due to the extreme complexity of epigenetic regulation. We studied …
Opposing functions of microglial and macrophagic TNFR2 in the pathogenesis of experimental autoimmune encephalomyelitis
In multiple sclerosis (MS), soluble tumor necrosis factor (TNF) is detrimental via activation of
TNF receptor 1 (TNFR1), whereas transmembrane TNF is beneficial primarily by activating …
TNF receptor 1 (TNFR1), whereas transmembrane TNF is beneficial primarily by activating …
[HTML][HTML] From next-generation resequencing reads to a high-quality variant data set
SP Pfeifer - Heredity, 2017 - nature.com
Sequencing has revolutionized biology by permitting the analysis of genomic variation at an
unprecedented resolution. High-throughput sequencing is fast and inexpensive, making it …
unprecedented resolution. High-throughput sequencing is fast and inexpensive, making it …
MiOS, an integrated imaging and computational strategy to model gene folding with nucleosome resolution
The linear sequence of DNA provides invaluable information about genes and their
regulatory elements along chromosomes. However, to fully understand gene function and …
regulatory elements along chromosomes. However, to fully understand gene function and …
Enhanced sequencing coverage with digital droplet multiple displacement amplification
Sequencing small quantities of DNA is important for applications ranging from the assembly
of uncultivable microbial genomes to the identification of cancer-associated mutations. To …
of uncultivable microbial genomes to the identification of cancer-associated mutations. To …