Article

Correcting Methylation Calls in Clinically Relevant Low-Mappability Regions

2021-10-05

Abstract excerpt

DNA methylation is an important component in vital biological functions such as embryonic development, carcinogenesis, and heritable regulation. Accurate methods to assess genomic methylation status are crucial to its effective use in many scenarios, especially in the detection and diagnosis of disease. Methylation aligners, such as Bismark and bwa-meth, frequently assign significantly higher MapQ values than can...

Topics

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

Identifiers and source

Literature Corpus work: cf7358cb-fc52-5a30-899a-fb4273fa0f19
DOI: 10.1101/2021.10.04.463127

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Correcting Methylation Calls in Clinically Relevant Low-Mappability RegionsDOI 10.1101/2021.10.04.463127Read

Umap and Bismap: quantifying genome and methylome mappabilitySemantic proximity Read

CGmapTools improves the precision of heterozygous SNV calls and supports allele-specific methylation detection and visualization in bisulfite-sequencing data.Semantic proximity Read

Systematic and benchmarking studies of pipelines for mammal WGBS data in the novel NGS platformSemantic proximity Read

Targeted alignment and end repair elimination increase alignment and methylation measure accuracy for reduced representation bisulfite sequencing data.Semantic proximity Read

Methyl-CODEC enables simultaneous methylation and duplex sequencingSemantic proximity Read

asms: finding allele-specific methylation in human genomes without phasing.Semantic proximity Read

LiBis: An ultrasensitive alignment method for low-input bisulfite sequencingSemantic proximity Read

Bis-SNP: combined DNA methylation and SNP calling for Bisulfite-seq data.Semantic proximity Read

Pash 3.0: A versatile software package for read mapping and integrative analysis of genomic and epigenomic variation using massively parallel DNA sequencing.Semantic proximity Read

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

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

Identifying mislabeled and contaminated DNA methylation microarray data: an extended quality control toolset with examples from GEO.Semantic proximity Read