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

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

Author: Demidov, German; Laurie, Steven; Torella, Annalaura; Piluso, Giulio; Scala, Marcello; Morleo, Manuela; Nigro, Vincenzo; Graessner, Holm; Banka, Siddharth; Lohmann, Katja; Ossowski, Stephan
Tübinger Autor(en):
Demidov, German
Graessner, Holm
Ossowski, Stephan
Published in: European Journal of Human Genetics (2024), Bd. 32, H. 8, S. 998-1004
Verlagsangabe: London : Springernature
Language: English
Full text: http://dx.doi.org/10.1038/s41431-024-01637-4
ISSN: 1018-4813
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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