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 …

Identifying and mitigating bias in next-generation sequencing methods for chromatin biology

CA Meyer, XS Liu - Nature Reviews Genetics, 2014 - nature.com
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 …

RSeQC: quality control of RNA-seq experiments

L Wang, S Wang, W Li - Bioinformatics, 2012 - academic.oup.com
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 …

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 …

Impact of artifact removal on ChIP quality metrics in ChIP-seq and ChIP-exo data

TS Carroll, Z Liang, R Salama, R Stark… - Frontiers in …, 2014 - frontiersin.org
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 …

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 …

Opposing functions of microglial and macrophagic TNFR2 in the pathogenesis of experimental autoimmune encephalomyelitis

H Gao, MC Danzi, CS Choi, M Taherian… - Cell reports, 2017 - cell.com
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 …

[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 …

MiOS, an integrated imaging and computational strategy to model gene folding with nucleosome resolution

MV Neguembor, JP Arcon, D Buitrago… - Nature structural & …, 2022 - nature.com
The linear sequence of DNA provides invaluable information about genes and their
regulatory elements along chromosomes. However, to fully understand gene function and …

Enhanced sequencing coverage with digital droplet multiple displacement amplification

AM Sidore, F Lan, SW Lim, AR Abate - Nucleic acids research, 2016 - academic.oup.com
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 …