LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data

por Fang, Li, Kao, Charlly, Gonzalez, Michael V., Mafra, Fernanda A., Pellegrino da Silva, Renata, Li, Mingyao, Wenzel, Sören-Sebastian, Wimmer, Katharina, Hakonarson, Hakon, Wang, Kai
Publicado 2019

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes

por Gallon, Richard, Mühlegger, Barbara, Wenzel, Sören‐Sebastian, Sheth, Harsh, Hayes, Christine, Aretz, Stefan, Dahan, Karin, Foulkes, William, Kratz, Christian P., Ripperger, Tim, Azizi, Amedeo A., Baris Feldman, Hagit, Chong, Anne‐Laure, Demirsoy, Ugur, Florkin, Benoît, Imschweiler, Thomas, Januszkiewicz‐Lewandowska, Danuta, Lobitz, Stephan, Nathrath, Michaela, Pander, Hans‐Jürgen, Perez‐Alonso, Vanesa, Perne, Claudia, Ragab, Iman, Rosenbaum, Thorsten, Rueda, Daniel, Seidel, Markus G., Suerink, Manon, Taeubner, Julia, Zimmermann, Stefanie‐Yvonne, Zschocke, Johannes, Borthwick, Gillian M., Burn, John, Jackson, Michael S., Santibanez‐Koref, Mauro, Wimmer, Katharina
Publicado 2019