Article

Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition

2023-09-27

Abstract excerpt

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 permi...

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Literature Corpus work: 1a7fc088-57fd-53c3-b04d-51f7581eeea3
DOI: 10.1101/2023.09.26.559521

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