In this review, we provide a comprehensive overview of the different computational tools that have been published for the deconvolution of bulk DNA methylation (DNAm) data. Here, deconvolution refers to the estimation of cell-type proportions that constitute a mixed sample. The paper reviews and compares 25 deconvolution methods (supervised, unsupervised or hybrid) developed between 2012 and 2023 and compares the strengths and limitations of each approach. Moreover, in this study, we describe the impact of the platform used for the generation of methylation data (including microarrays and sequencing), the applied data pre-processing steps and the used reference dataset on the deconvolution performance. Next to reference-based methods, we also examine methods that require only partial reference datasets or require no reference set at all. In this review, we provide guidelines for the use of specific methods dependent on the DNA methylation data type and data availability.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11102637PMC
http://dx.doi.org/10.1093/bib/bbae234DOI Listing

Publication Analysis

Top Keywords

dna methylation
12
methylation data
12
review provide
8
data
6
computational deconvolution
4
dna
4
deconvolution dna
4
methylation
4
data mixed
4
mixed dna
4

Similar Publications

Unlabelled: Cladribine indirectly downregulates methylation of DNA, RNA, and histones by blocking the transfer of methyl groups from -adenosyl-methionine. The cladribine and rituximab combination showed a synergetic effect in treating B-cell lymphomas. Bortezomib (Velcade) is a Food and Drug Administration (FDA)-approved proteasome inhibitor for treating mantle cell lymphoma (MCL).

View Article and Find Full Text PDF

Heterodisomy in the locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3).

Front Endocrinol (Lausanne)

December 2024

Rare Disease Research Group, Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital, Vitoria-Gasteiz, Spain.

Objective: To identify the genetic cause underlying the methylation defect in a patient with clinical suspicion of PHP1B/iPPSD3.

Design: Imprinting is an epigenetic mechanism that allows the regulation of gene expression. The locus is one of the loci within the genome that is imprinted.

View Article and Find Full Text PDF

Silencing of STEAP3 suppresses cervical cancer cell proliferation and migration via JAK/STAT3 signaling pathway.

Cancer Metab

December 2024

Department of Obstetrics and Gynecology, First Affiliated Hospital, Shihezi University, Shihezi, China.

Article Synopsis
  • STEAP3 is a critical protein associated with cervical cancer (CC) progression, showing strong expression in CC tissues and linked to poor patient prognosis.
  • The study employed various methods, such as immunohistochemistry and RNA sequencing, to investigate STEAP3's role, revealing that lower methylation levels of STEAP3 are connected to worse outcomes.
  • Knockdown of STEAP3 in CC cells reduced their growth and invasion abilities while enhancing drug sensitivity, suggesting STEAP3 drives cancer cell activity through the activation of the JAK/STAT3 signaling pathway.
View Article and Find Full Text PDF

N6-methyladenosine regulates metabolic remodeling in kidney aging through transcriptional regulator GLIS1.

BMC Biol

December 2024

Department of Orthodontics, School and Hospital of Stomatology, Liaoning Provincial Key Laboratory of Oral Diseases, China Medical University, Shenyang, 110001, China.

Background: Age-related kidney impairment, characterized by tubular epithelial cell senescence and renal fibrosis, poses a significant global public health threat. Although N6-methyladenosine (m6A) methylation is implicated in various pathological processes, its regulatory mechanism in kidney aging remains unclear.

Methods: An m6A-mRNA epitranscriptomic microarray was performed to identify genes with abnormal m6A modifications in aged human kidney tissues.

View Article and Find Full Text PDF

Single-cell DNA methylation measurements reveal genome-scale inter-cellular epigenetic heterogeneity, but extreme sparsity and noise challenges rigorous analysis. Previous methods to detect variably methylated regions (VMRs) have relied on predefined regions or sliding windows and report regions insensitive to heterogeneity level present in input. We present vmrseq, a statistical method that overcomes these challenges to detect VMRs with increased accuracy in synthetic benchmarks and improved feature selection in case studies.

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!