Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

PURPOSE: Current diagnostic testing for genetic disorders involves serial use of specialized assays spanning multiple technologies. In principle, genome sequencing (GS) can detect all genomic pathogenic variant types on a single platform. Here we evaluate copy-number variant (CNV) calling as part of...

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Detalles Bibliográficos
Autores principales: Gross, Andrew M., Ajay, Subramanian S., Rajan, Vani, Brown, Carolyn, Bluske, Krista, Burns, Nicole J., Chawla, Aditi, Coffey, Alison J., Malhotra, Alka, Scocchia, Alicia, Thorpe, Erin, Dzidic, Natasa, Hovanes, Karine, Sahoo, Trilochan, Dolzhenko, Egor, Lajoie, Bryan, Khouzam, Amirah, Chowdhury, Shimul, Belmont, John, Roller, Eric, Ivakhno, Sergii, Tanner, Stephen, McEachern, Julia, Hambuch, Tina, Eberle, Michael, Hagelstrom, R. Tanner, Bentley, David R., Perry, Denise L., Taft, Ryan J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752263/
https://www.ncbi.nlm.nih.gov/pubmed/30293986
http://dx.doi.org/10.1038/s41436-018-0295-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752263/
https://www.ncbi.nlm.nih.gov/pubmed/30293986
http://dx.doi.org/10.1038/s41436-018-0295-y

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