Abstract:
:Personalized medicine has been driven by improvements in genomic sequencing and analysis. For several diseases, in particular cancers, it has for nearly a decade been standard clinical practice to analyze the genome and expression of the genes of patients. The results are reflected directly in the treatment plan for the patient, in targeted medical inventions. This specialized mode of diagnostics has been restricted to account for averaged trends in the tumor. The approach sharply contrasts our knowledge on heterogeneity within tumors. Several studies further describe how treatment against one tumor subclone in some cases merely serves to provide space and support for uncontrolled growth of more aggressive subclones. In this chapter, we describe current possibilities for implementation of single cell sequencing of malignomas in clinic, as well as discuss hands-on practical advice for single cell routine diagnostics that allows for full delineation of tumor clonality.
journal_name
Adv Exp Med Bioljournal_title
Advances in experimental medicine and biologyauthors
Bagger FO,Probst Vdoi
10.1007/978-981-15-4494-1_15subject
Has Abstractpub_date
2020-01-01 00:00:00pages
175-193eissn
0065-2598issn
2214-8019journal_volume
1255pub_type
杂志文章,评审abstract::CEP290 mutations cause a spectrum of ciliopathies, including Leber congenital amaurosis. Milder retinal diseases have been ascribed to exclusion of CEP290 mutant exons through basal exon skipping (BES) and/or nonsense-associated altered splicing (NAS). Here, we report two siblings with some preserved vision despite bi...
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journal_title:Advances in experimental medicine and biology
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更新日期:2019-01-01 00:00:00
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