Murali Srinivasan, Stephan Duong, Veronique Trombert, Nicole Kalberer, Dina Zekry, François R Herrmann, Joris Delavy, Gabriel Gold, Frauke Müller
A novel prosthesis presentation test to screen for cognitive and functional decline
Gerodontology
longread whole genome sequencing like oxford nanopore technology increasingly introduced clinical settings ability simultaneously call sequence variation dna modifications including 5methylcytosine nanopore promising technology improve diagnostics imprinting disorders currently tools analyze dna methylation patterns known clinically relevant imprinted regions available present nanoimprint generates easily interpretable report based longread nanopore sequencing use identifying clinical relevant abnormalities methylation levels 14 imprinted regions diagnosis common imprinting disorders nanoimprint outputs summarizing table visualization plots displays methylation frequency chromosomal positions regions phased data colorcoded two alleles demonstrate utility nanoimprint using three imprinting disorder samples patients beckwithwiedemann syndrome bws angelman syndrome praderwilli syndrome pws nanoimprint script available httpsgithubcomcarolineheynanoimprint