%0 Journal Article
%T Long-read single-molecule maps of the functional methylome
%A Alex
%A Alex R. Hastie
%A Assaf Grunwald
%A Br
%A Dmitry Torchinsky
%A Elmar Weinhold
%A Eric Vilain
%A Ernest T. Lam
%A Felix Gularek
%A Gil Nifker
%A Han Cao
%A Hayk Barseghyan
%A Hila Sharim
%A Jeff Reifenberger
%A Jonathan Pevsner
%A Kathryn R. Wagner
%A Matyas Juhasz
%A Miguel Almalvez
%A Rani Arielly
%A Sapir Margalit
%A Sreetama Sen Ch
%A Surajit Bhattacharya
%A Tslil Gabrieli
%A Yael Michaeli
%A Yi-Wen Chen
%A Yuval Ebenstein
%A er Liu
%A on Dufault
%A ra
%J Genome Research
%D 2019
%R http://www.genome.org/cgi/doi/10.1101/gr.240739.118
%X Abstract We report on the development of a methylation analysis workflow for optical detection of fluorescent methylation profiles along chromosomal DNA molecules. In combination with Bionano Genomics genome mapping technology, these profiles provide a hybrid genetic/epigenetic genome-wide map composed of DNA molecules spanning hundreds of kilobase pairs. The method provides kilobase pair¨Cscale genomic methylation patterns comparable to whole-genome bisulfite sequencing (WGBS) along genes and regulatory elements. These long single-molecule reads allow for methylation variation calling and analysis of large structural aberrations such as pathogenic macrosatellite arrays not accessible to single-cell second-generation sequencing. The method is applied here to study facioscapulohumeral muscular dystrophy (FSHD), simultaneously recording the haplotype, copy number, and methylation status of the disease-associated, highly repetitive locus on Chromosome 4q
%U https://genome.cshlp.org/content/29/4/646.abstract