Article

Detection of outlier methylation from bisulfite sequencing data with novel Bioconductor package BOREALIS

2022-05-20

Abstract excerpt

DNA sequencing results in genetic diagnosis of 18-40% of previously unsolved cases, while the incorporation of RNA-Seq analysis has more recently been shown to generate significant numbers of previously unattainable diagnoses. Multiple inborn diseases resulting from disorders of genomic imprinting are well characterized and a growing body of literature suggest the causative or correlative role of aberrant DNA meth...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: a941d353-0d43-56b0-a11d-fdfd35a78db9
DOI: 10.1101/2022.05.19.492700

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Detection of outlier methylation from bisulfite sequencing data with novel Bioconductor package BOREALISDOI 10.1101/2022.05.19.492700Read

BOREALIS: an R/Bioconductor package to detect outlier methylation from bisulfite sequencing dataSemantic proximity Read

Population-scale detection of methylation outliers from long-read genome sequencingSemantic proximity Read

Identification of differentially methylated regions in rare diseases from a single patient perspectiveSemantic proximity Read

Anatomy of DNA methylation signatures: Emerging insights and applications.Semantic proximity Read

A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions.Semantic proximity Read

A survey of rare epigenetic variation in 23,116 human genomes identifies disease-relevant epivariations and novel CGG expansionsSemantic proximity Read

Investigating the potential of single-cell DNA methylation data to detect allele-specific methylation and imprinting.Semantic proximity Read

PoreMeth2: decoding the evolution of methylome alterations with Nanopore sequencingSemantic proximity Read

Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseasesSemantic proximity Read

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.Semantic proximity Read

Nanopore sequencing-based episignature detectionSemantic proximity Read

Combined genomic and phenotypic classification of inherited and acquired genetic disease with long-read sequencingSemantic proximity Read