The Illumina Infinium methylation assay for genome-wide methylation analyses

Nakabayashi, Kazuhiko

doi:10.1016/b978-0-12-819414-0.00007-0

Cited by 3 publications

(1 citation statement)

References 78 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, a direct comparison of this method with the method based on the analysis of allele-specific RNA expression at distinct heterozygous loci by RT-qPCR showed a number of inconsistencies suggesting that the methylation status does not always reflect expression [ 210 ]. Currently, other methods, e.g., integrated analysis of whole-exome and mRNA sequencing [ 211 ], allele-specific expression analysis [ 212 ], and genome-wide methylation analyses [ 213 ], are used in laboratory testing enabling a more accurate assessment of the XCI ratios.…”

Section: Summary Of Effects Of Skewed X Inactivation On Metabolic Diseasesmentioning

confidence: 99%

Dosage Compensation in Females with X-Linked Metabolic Disorders

Juchniewicz

Piotrowska

Kłoska

et al. 2021

IJMS

View full text Add to dashboard Cite

Through the use of new genomic and metabolomic technologies, our comprehension of the molecular and biochemical etiologies of genetic disorders is rapidly expanding, and so are insights into their varying phenotypes. Dosage compensation (lyonization) is an epigenetic mechanism that balances the expression of genes on heteromorphic sex chromosomes. Many studies in the literature have suggested a profound influence of this phenomenon on the manifestation of X-linked disorders in females. In this review, we summarize the clinical and genetic findings in female heterozygotic carriers of a pathogenic variant in one of ten selected X-linked genes whose defects result in metabolic disorders.

show abstract

Section: Summary Of Effects Of Skewed X Inactivation On Metabolic Diseasesmentioning

confidence: 99%

Dosage Compensation in Females with X-Linked Metabolic Disorders

Juchniewicz

Piotrowska

Kłoska

et al. 2021

IJMS

View full text Add to dashboard Cite

show abstract

Analytical Methods and Tools to Study the Epigenome

Ortega‐Recalde

Hore

2023

Epigenetics in Aquaculture

View full text Add to dashboard Cite

A capture methyl-seq protocol with improved efficiency and cost-effectiveness using pre-pooling and enzymatic conversion

et al. 2023

View full text Add to dashboard Cite

Objective The opportunities for sequencing-based methylome analysis of clinical samples are increasing. To reduce its cost and the amount of genomic DNA required for library preparation, we aimed to establish a capture methyl-seq protocol, which adopts pre-pooling of multiple libraries before hybridization capture and TET2/APOBEC-mediated conversion of unmethylated cytosine to thymine. Results We compared a publicly available dataset generated by the standard Agilent protocol of SureSelect XT Human Methyl-Seq Kit and our dataset obtained by our modified protocol, EMCap, that adopted sample pre-pooling and enzymatic conversion. We confirmed that the quality of DNA methylation data was comparable between the two datasets. As our protocol, EMCap, is more cost-effective and reduces the amount of input genomic DNA, it would serve as a better choice for clinical methylome sequencing.

show abstract

The Illumina Infinium methylation assay for genome-wide methylation analyses

Cited by 3 publications

References 78 publications

Dosage Compensation in Females with X-Linked Metabolic Disorders

Dosage Compensation in Females with X-Linked Metabolic Disorders

Analytical Methods and Tools to Study the Epigenome

A capture methyl-seq protocol with improved efficiency and cost-effectiveness using pre-pooling and enzymatic conversion

Contact Info

Product

Resources

About