PacBio Rare Disease Study

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.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

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

Publications	Citations
Structural variation in 1,019 diverse humans based on long-read sequencing. Schloissnig S, Pani S, Ebler J, Hain C, Tsapalou V, Söylev A, Hüther P, Ashraf H, Prodanov T, Asparuhova M, Magalhães H, Höps W, Sotelo-Fonseca JE, Fitzgerald T, Santana-Garcia W, Moreira-Pinhal R, Hunt S, Pérez-Llanos FJ, Wollenweber TE, Sivalingam S, Wieczorek D, Cáceres M, Gilissen C, Birney E, Ding Z, Jensen JN, Podduturi N, Stutzki J, Rodriguez-Martin B, Rausch T, Marschall T, Korbel JO. Nature 644: 2025 442-452	10

Publications

Citations

Structural variation in 1,019 diverse humans based on long-read sequencing.
Schloissnig S, Pani S, Ebler J, Hain C, Tsapalou V, Söylev A, Hüther P, Ashraf H, Prodanov T, Asparuhova M, Magalhães H, Höps W, Sotelo-Fonseca JE, Fitzgerald T, Santana-Garcia W, Moreira-Pinhal R, Hunt S, Pérez-Llanos FJ, Wollenweber TE, Sivalingam S, Wieczorek D, Cáceres M, Gilissen C, Birney E, Ding Z, Jensen JN, Podduturi N, Stutzki J, Rodriguez-Martin B, Rausch T, Marschall T, Korbel JO. Nature 644: 2025 442-452