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

Tool (asms) identifying allele-specific methylation loci from methylation data without prior phasing, via inter-read methylation heterogeneity

Allele-specific methylation (ASM) reflects differential methylation between the two alleles, linked to imprinting or genetic variants, and plays a role in gene regulation and disease. Detection methods usually rely on variant-based phasing, computationally intensive and failing in low-heterozygosity regions. The authors develop asms (Allele-Specific Methylation Scanner), which identifies ASM loci without prior phasing by analysing inter-read methylation heterogeneity. Tested on Oxford Nanopore data, it applies to any platform using MM/ML tags and can efficiently scan thousands of loci.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

A clever methodological tool that removes a real constraint — phasing — for allele-specific methylation analysis, relevant notably to imprinting disorders. Its diagnostic added value on real clinical cases beyond technical proof remains to be shown.

Analysis by Dr Thibaut Benquey