Search and comparison of (epi)genomic feature patterns in multiple genome browser tracks.

BMC Bioinformatics

Dipartimento di Elettronica, Informazione e Bioingegneria, Politecnico di Milano, 20133, Milan, Italy.

Published: October 2020

Background: Genome browsers are widely used for locating interesting genomic regions, but their interactive use is obviously limited to inspecting short genomic portions. An ideal interaction is to provide patterns of regions on the browser, and then extract other genomic regions over the whole genome where such patterns occur, ranked by similarity.

Results: We developed SimSearch, an optimized pattern-search method and an open source plugin for the Integrated Genome Browser (IGB), to find genomic region sets that are similar to a given region pattern. It provides efficient visual genome-wide analytics computation in large datasets; the plugin supports intuitive user interactions for selecting an interesting pattern on IGB tracks and visualizing the computed occurrences of similar patterns along the entire genome. SimSearch also includes functions for the annotation and enrichment of results, and is enhanced with a Quickload repository including numerous epigenomic feature datasets from ENCODE and Roadmap Epigenomics. The paper also includes some use cases to show multiple genome-wide analyses of biological interest, which can be easily performed by taking advantage of the presented approach.

Conclusions: The novel SimSearch method provides innovative support for effective genome-wide pattern search and visualization; its relevance and practical usefulness is demonstrated through a number of significant use cases of biological interest. The SimSearch IGB plugin, documentation, and code are freely available at https://deib-geco.github.io/simsearch-app/ and https://github.com/DEIB-GECO/simsearch-app/ .

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7574191PMC
http://dx.doi.org/10.1186/s12859-020-03781-2DOI Listing

Publication Analysis

Top Keywords

epigenomic feature
8
genome browser
8
genomic regions
8
biological interest
8
genome
5
search comparison
4
comparison epigenomic
4
patterns
4
feature patterns
4
patterns multiple
4

Similar Publications

Ectopic expression of DNMT3L in human trophoblast stem cells restores features of the placental methylome.

Cell Stem Cell

December 2024

Loke Centre for Trophoblast Research, University of Cambridge, Cambridge, UK; Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK. Electronic address:

The placental DNA methylation landscape is unique, with widespread partially methylated domains (PMDs). The placental "methylome" is conserved across mammals, a shared feature of many cancers, and extensively studied for links with pregnancy complications. Human trophoblast stem cells (hTSCs) offer exciting potential for functional studies to better understand this epigenetic feature; however, whether the hTSC epigenome recapitulates primary trophoblast remains unclear.

View Article and Find Full Text PDF

Carcinogenesis often involves significant alterations in the cancer genome, marked by large structural variants (SVs) and copy number variations (CNVs) that are difficult to capture with short-read sequencing. Traditionally, cytogenetic techniques are applied to detect such aberrations, but they are limited in resolution and do not cover features smaller than several hundred kilobases. Optical genome mapping (OGM) and nanopore sequencing [Oxford Nanopore Technologies (ONT)] bridge this resolution gap and offer enhanced performance for cytogenetic applications.

View Article and Find Full Text PDF

To image or not to image: Use of imaging mass spectrometry in biomedical lipidomics.

Prog Lipid Res

January 2025

Lipids in Human Pathology, Institut d'Investigació Sanitària Illes Balears (IdISBa) - Health Research Institute of the Balearic Islands, Ctra. Valldemossa 79, Section G, Floor -1, E-07120 Palma, Balearic Islands, Spain; Research Unit, University Hospital Son Espases, Ctra Valldemossa 79, E-07120 Palma, Balearic Islands, Spain. Electronic address:

Lipid imaging mass spectrometry (LIMS) allows for establishing the bidimensional distribution of lipid species within a tissue section. One of the main advantages is the generation of spatial information on lipid species distribution at a spatial (lateral) resolution bordering on single-cell resolution with no need to isolate cells. Thus, LIMS images demonstrate, with a level of detail never described before, that lipid profiles are highly sensitive to cell type and pathophysiological state.

View Article and Find Full Text PDF
Article Synopsis
  • PAX2 is identified as an endometrial tumor suppressor frequently inactivated through a unique epigenetic mechanism, rather than promoter hypermethylation.
  • In 80% of endometrial cancers, the loss of PAX2 is linked to transcriptional silencing, which alters chromatin features, contributing to cancer development.
  • The research highlights new pathways for understanding endometrial cancer origins, potentially influencing future diagnosis and treatment approaches.
View Article and Find Full Text PDF

Tumor heterogeneity is the substrate for tumor evolution and the linchpin of treatment resistance. Cancer cell heterogeneity is largely attributed to distinct genetic changes within each cell population. However, the widespread epigenome repatterning that characterizes most cancers is also highly heterogenous within tumors and could generate cells with diverse identities and malignant features.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!