Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

BACKGROUND: Genomic structural variants (SVs) can affect many genes and regulatory elements. Therefore, the molecular mechanisms driving the phenotypes of patients carrying de novo SVs are frequently unknown. METHODS: We applied a combination of systematic experimental and bioinformatic methods to i...

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Detalles Bibliográficos
Autores principales: Middelkamp, Sjors, Vlaar, Judith M., Giltay, Jacques, Korzelius, Jerome, Besselink, Nicolle, Boymans, Sander, Janssen, Roel, de la Fonteijne, Lisanne, van Binsbergen, Ellen, van Roosmalen, Markus J., Hochstenbach, Ron, Giachino, Daniela, Talkowski, Michael E., Kloosterman, Wigard P., Cuppen, Edwin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6894143/
https://www.ncbi.nlm.nih.gov/pubmed/31801603
http://dx.doi.org/10.1186/s13073-019-0692-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6894143/
https://www.ncbi.nlm.nih.gov/pubmed/31801603
http://dx.doi.org/10.1186/s13073-019-0692-0

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