Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy

被引：0

作者：

M. M. Zwartkruis ^{[1
]}

M. G. Elferink ^{[2
]}

D. Gommers ^{[2
]}

I. Signoria ^{[1
]}

L. Blasco-Pérez ^{[2
]}

M. Costa-Roger ^{[1
]}

J. van der Sel ^{[3
]}

I. J. Renkens ^{[4
]}

J. W. Green ^{[3
]}

J. V. Kortooms ^{[4
]}

C. Vermeulen ^{[1
]}

R. Straver ^{[2
]}

H. W. M. van Deutekom ^{[2
]}

J. H. Veldink ^{[5
]}

F. Asselman ^{[6
]}

E. F. Tizzano ^{[1
]}

R. I. Wadman ^{[1
]}

W. L. van der Pol ^{[5
]}

G. W. van Haaften ^{[7
]}

E. J. N. Groen ^{[5
]}

机构：

[1] UMC Utrecht Brain Center,Department of Neurology and Neurosurgery

[2] University Medical Center Utrecht,Department of Genetics

[3] University Medical Center Utrecht,Medicine Genetics Group

[4] Vall d’Hebron Research Institute (VHIR),Department of Clinical and Molecular Genetics

[5] Hospital Vall d’Hebron,Center for Molecular Medicine

[6] University Medical Center Utrecht,Utrecht Sequencing Facility, Center for Molecular Medicine

[7] University Medical Center Utrecht,undefined

[8] Oncode Institute,undefined

来源：

Genome Medicine | / 17卷 / 1期

关键词：

Spinal muscular atrophy; Long-read sequencing; Gene conversion; Dark genomic regions; Segmental duplications;

D O I：

10.1186/s13073-025-01448-2

中图分类号：

学科分类号：

摘要：

引用

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