Mitchell R Vollger, Jonas Korlach, Kiara C Eldred, Elliott Swanson, Jason G Underwood, Yong-Han H Cheng, Jane Ranchalis, Yizi Mao, Elizabeth E Blue, Ulrike Schwarze, Katherine M Munson, Christopher T Saunders, Aaron M Wenger, Aimee Allworth, Sirisak Chanprasert, Brittney L Duerden, Ian Glass, Martha Horike-Pyne, Michelle Kim, Kathleen A Leppig, Ian J McLaughlin, Jessica Ogawa, Elisabeth A Rosenthal, Sam Sheppeard, Stephanie M Sherman, Samuel Strohbehn, Amy L Yuen, Thomas A Reh, Peter H Byers, Michael J Bamshad, Fuki M Hisama, Gail P Jarvik, Yasemin Sancak, Katrina M Dipple, Andrew B Stergachis
Resolving the molecular basis of a Mendelian condition (MC) remains challenging owing to the diverse mechanisms by which genetic variants cause disease. To address this, we developed a synchronized long-read genome, methylome, epigenome, and transcriptome sequencing approach, which enables accurate single-nucleotide, insertion-deletion, and structural variant calling and diploid de novo genome assembly, and permits the simultaneous elucidation of haplotype-resolved CpG methylation, chromatin accessibility, and full-length transcript information in a single long-read sequencing run...
September 27, 2023: bioRxiv