Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster

There is increasing interest in clinical genetics pertaining to the utilization of high-throughput sequencing data for accurate diagnoses of monogenic diseases. Moreover, massive whole-exome sequencing of tumors has provided significant advances in the understanding of cancer development through the...

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Detalles Bibliográficos
Autores principales: Santoni, Federico A., Makrythanasis, Periklis, Nikolaev, Sergey, Guipponi, Michel, Robyr, Daniel, Bottani, Armand, Antonarakis, Stylianos E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2014
Materias:
Resource
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3912425/
https://www.ncbi.nlm.nih.gov/pubmed/24389049
http://dx.doi.org/10.1101/gr.163832.113

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3912425/
https://www.ncbi.nlm.nih.gov/pubmed/24389049
http://dx.doi.org/10.1101/gr.163832.113

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