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TumorNext-Lynch-MMR: a comprehensive next generation sequencing assay for the detection of germline and somatic mutations in genes associated with mismatch repair deficiency and Lynch syndrome

The current algorithm for Lynch syndrome diagnosis is highly complex with multiple steps which can result in an extended time to diagnosis while depleting precious tumor specimens. Here we describe the analytical validation of a custom probe-based NGS tumor panel, TumorNext-Lynch-MMR, which generate...

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Detalhes bibliográficos
Publicado no:Oncotarget
Main Authors: Gray, Phillip N., Tsai, Pei, Chen, Daniel, Wu, Sitao, Hoo, Jayne, Mu, Wenbo, Li, Bing, Vuong, Huy, Lu, Hsiao-Mei, Batth, Navanjot, Willett, Sara, Uyeda, Lisa, Shah, Swati, Gau, Chia-Ling, Umali, Monalyn, Espenschied, Carin, Janicek, Mike, Brown, Sandra, Margileth, David, Dobrea, Lavinia, Wagman, Lawrence, Rana, Huma, Hall, Michael J., Ross, Theodora, Terdiman, Jonathan, Cullinane, Carey, Ries, Savita, Totten, Ellen, Elliott, Aaron M.
Formato: Artigo
Idioma:Inglês
Publicado em: Impact Journals LLC 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5945525/
https://ncbi.nlm.nih.gov/pubmed/29755653
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18632/oncotarget.24854
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