PacBio Rare Disease Study - DAC

Dr Sugirtahn Sivalingam
sugirtahn.sivalingam@med.uni-duesseldorf.de

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Dataset ID	Description	Technology	Samples
EGAD00001015611	This study leverages PacBio HiFi long-read sequencing technology to comprehensively analyze the genomic architecture of rare diseases. By generating highly accurate, long-read sequences, we aim to resolve complex structural variants, repeat expansions, and other genomic features that are often missed by short-read sequencing. Our approach facilitates improved variant detection and interpretation, advancing the understanding of rare disease etiology and enabling more precise genetic diagnoses.	Sequel IIe	10