GeneticsNature GeneticsPeer-reviewed
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Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition
Mitchell Robert Vollger, Jonas Korlach, Kiara C. Eldred…·Andrew B. Stergachis
Pooling Fiber-seq gDNA with concatenated MAS-Seq cDNA in one PacBio run gives phased genome, methylome, chromatin, and transcriptome, exposing four gene disruptions from one X;13 translocation.
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