Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders

Schrauwen, I., Rajendran, Y., Acharya, A., Öhman, S., Arvio, M., Paetau, R., Siren, A., Avela, K., Granvik, J., Leal, S. M., Määttä, T., Kokkonen, H., & Järvelä, I. (2024). Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders. Scientific Reports, 14(1). https://doi.org/10.1038/s41598-024-62009-y
Authors:
Isabelle Schrauwen
Yasmin Rajendran
Anushree Acharya
Susanna Öhman
Maria Arvio
Ritva Paetau
Auli Sirén
Kristiina Avela
Johanna Granvik
Suzanne M. Leal
Tuomo Määttä
Hannaleena Kokkonen
Irma Järvelä
Affiliated Authors:
Isabelle Schrauwen
Yasmin Rajendran
Anushree Acharya
Suzanne M. Leal
Columbia Affiliation:
Subjects:
Neurodevelopmental Disorders (MeSH)
DNA Copy Number Variations (MeSH)
Chromosome Mapping (MeSH)
Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)
Genomic Rearrangements and Copy Number Variations (OpenAlex Topic)
RNA Sequencing Data Analysis (OpenAlex Topic)
Author Keywords:
copy number variants
neurodevelopmental disorders
optical genome mapping
structural variants
unsolved cases
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Publication Type:
Article
Unique ID:
10.1038/s41598-024-62009-y
PMID:
38755281
DOI:
10.1038/s41598-024-62009-y
Journal:
Scientific Reports
Publication Date:
Data Source:
OpenAlex
Source Link:
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