Elizabeth Blue

2 months ago | nature.com | Mitchell R. Vollger |Kiara C. Eldred |Elliott Swanson |Elizabeth Blue |Katherine Munson |Jessica Ogawa | +4 more

AbstractResolving the molecular basis of a Mendelian condition 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.