Conserved non-coding elements: developmental gene regulation meets genome organization

D Polychronopoulos, JWD King, AJ Nash… - Nucleic acids …, 2017 - academic.oup.com
Comparative genomics has revealed a class of non-protein-coding genomic sequences that
display an extraordinary degree of conservation between two or more organisms, regularly …

A genome alignment of 120 mammals highlights ultraconserved element variability and placenta-associated enhancers

N Hecker, M Hiller - Gigascience, 2020 - academic.oup.com
Background Multiple alignments of mammalian genomes have been the basis of many
comparative genomic studies aiming at annotating genes, detecting regions under …

A transcribed ultraconserved noncoding RNA, Uc. 173, is a key molecule for the inhibition of lead-induced neuronal apoptosis

A Nan, X Zhou, L Chen, M Liu, N Zhang, L Zhang… - …, 2015 - pmc.ncbi.nlm.nih.gov
As a common toxic metal, lead has significant neurotoxicity to brain development. Long non-
coding RNAs (lncRNAs) function in multiple biological processes. However, whether …

Auto-and cross-regulation of the hnRNPs D and DL

K Kemmerer, S Fischer, JE Weigand - Rna, 2018 - rnajournal.cshlp.org
HnRNP D, better known as AUF1, is an extensively studied protein that controls a variety of
cellular pathways. Consequently, its expression has to be tightly regulated to prevent the …

RNAdetector: a free user-friendly stand-alone and cloud-based system for RNA-Seq data analysis

A La Ferlita, S Alaimo, S Di Bella, E Martorana… - BMC …, 2021 - Springer
Background RNA-Seq is a well-established technology extensively used for transcriptome
profiling, allowing the analysis of coding and non-coding RNA molecules. However, this …

Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

V Lopez Soriano, A Dueñas Rey, R Mukherjee… - Nature …, 2024 - nature.com
Cross-species genome comparisons have revealed a substantial number of ultraconserved
non-coding elements (UCNEs). Several of these elements have proved to be essential …

Computationally defined and in vitro validated putative genomic safe harbour loci for transgene expression in human cells

MI Autio, E Motakis, A Perrin, TB Amin, Z Tiang, DV Do… - Elife, 2024 - elifesciences.org
Selection of the target site is an inherent question for any project aiming for directed
transgene integration. Genomic safe harbour (GSH) loci have been proposed as safe sites …

Impact of genetic variation in gene regulatory sequences: A population genomics perspective

M Joshi, A Kapopoulou, S Laurent - Frontiers in genetics, 2021 - frontiersin.org
The unprecedented rise of high-throughput sequencing and assay technologies has
provided a detailed insight into the non-coding sequences and their potential role as gene …

Frameshift alignment: statistics and post-genomic applications

SL Sheetlin, Y Park, MC Frith, JL Spouge - Bioinformatics, 2014 - academic.oup.com
Motivation: The alignment of DNA sequences to proteins, allowing for frameshifts, is a
classic method in sequence analysis. It can help identify pseudogenes (which accumulate …

Visual exploratory data analysis for copy number variation studies in biomedical research

C Vischioni, F Bove, F Mandreoli, R Martoglia, V Pisi… - Big Data Research, 2022 - Elsevier
Abstract The study of Copy Number Variations (CNVs) is recently emerging as a hot topic for
biomedical cancer research. While different data sources, websites, and tools concerning …