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Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants

Next generation sequencing (NGS) technologies have revolutionized our approach to genomic research. The use of whole genome sequencing (WGS), whole exome sequencing (WES), transcriptome profiling, and targeted DNA sequencing has exponentially improved our understanding of the human genome and the ge...

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Detalles Bibliográficos
Autores principales: Miller, Eirwen M., Patterson, Nicole E., Zechmeister, Jenna Marcus, Bejerano-Sagie, Michal, Delio, Maria, Patel, Kunjan, Ravi, Nivedita, Quispe-Tintaya, Wilber, Maslov, Alexander, Simmons, Nichelle, Castaldi, Maria, Vijg, Jan, Karabakhtsian, Rouzan G., Greally, John M., Kuo, Dennis Y.S., Montagna, Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5731933/
https://www.ncbi.nlm.nih.gov/pubmed/29254223
http://dx.doi.org/10.18632/oncotarget.22116