Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

Demidov, German; Laurie, Steven; Torella, Annalaura; Piluso, Giulio; Scala, Marcello; Morleo, Manuela; Nigro, Vincenzo; Graessner, Holm; Banka, Siddharth; Lohmann, Katja; Ossowski, Stephan

dc.contributor.author	Demidov, German
dc.contributor.author	Graessner, Holm
dc.contributor.author	Ossowski, Stephan
dc.date.accessioned	2025-01-13T08:00:14Z
dc.date.available	2025-01-13T08:00:14Z
dc.date.issued	2024
dc.identifier.issn	1018-4813
dc.identifier.uri	http://hdl.handle.net/10900/160040
dc.language.iso	en	de_DE
dc.publisher	London : Springernature	de_DE
dc.relation.uri	http://dx.doi.org/10.1038/s41431-024-01637-4	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes	de_DE
dc.type	Article	de_DE
utue.quellen.id	20241001000000_01356
utue.publikation.seiten	998-1004	de_DE
utue.personen.roh	Demidov, German
utue.personen.roh	Laurie, Steven
utue.personen.roh	Torella, Annalaura
utue.personen.roh	Piluso, Giulio
utue.personen.roh	Scala, Marcello
utue.personen.roh	Morleo, Manuela
utue.personen.roh	Nigro, Vincenzo
utue.personen.roh	Graessner, Holm
utue.personen.roh	Banka, Siddharth
utue.personen.roh	Lohmann, Katja
utue.personen.roh	Ossowski, Stephan
dcterms.isPartOf.ZSTitelID	European Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	8	de_DE
dcterms.isPartOf.ZS-Volume	32	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE