منابع مشابه
Desktop transcriptome sequencing from archival tissue to identify clinically relevant translocations.
Somatic mutations, often translocations or single nucleotide variations, are pathognomonic for certain types of cancers and are increasingly of clinical importance for diagnosis and prediction of response to therapy. Conventional clinical assays only evaluate 1 mutation at a time, and targeted tests are often constrained to identify only the most common mutations. Genome-wide or transcriptome-w...
متن کاملSingle molecule quantitation and sequencing of rare translocations using microfluidic nested digital PCR
Cancers are heterogeneous and genetically unstable. New methods are needed that provide the sensitivity and specificity to query single cells at the genetic loci that drive cancer progression, thereby enabling researchers to study the progression of individual tumors. Here, we report the development and application of a bead-based hemi-nested microfluidic droplet digital PCR (dPCR) technology t...
متن کاملNext-Generation Sequencing of Apoptotic DNA Breakpoints Reveals Association with Actively Transcribed Genes and Gene Translocations
DNA fragmentation is a well-recognized hallmark of apoptosis. However, the precise DNA sequences cleaved during apoptosis triggered by distinct mechanisms remain unclear. We used next-generation sequencing of DNA fragments generated in Actinomycin D-treated human HL-60 leukemic cells to generate a high-throughput, global map of apoptotic DNA breakpoints. These data highlighted that DNA breaks a...
متن کاملDetection of prognostically relevant mutations and translocations in myeloid sarcoma by next generation sequencing
Myeloid sarcoma (MS) is a subgroup of acute myeloid leukemia (AML) where myeloid blasts form a tumoral mass in extramedullary tissues [1]. MS may occur at any point during the disease course and almost every site of the body can be affected. Although MS is often diagnosed as an isolated event without concomitant bone marrow involvement, virtually all of these patients will develop overt hematol...
متن کاملAssessment of Yqh translocations.
Two initially presumed Yqh translocations, one to Xp and another to 21p, were assessed by conventional banding procedures, 5-azacytidine treatment, electron microscopy, and fluorescence in situ hybridisation. While the Yqh nature of the heterochromatic block from Xp was confirmed, this was not the case with the 21ph+ variant. In conclusion, conventional banding techniques are insufficient to di...
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ژورنال
عنوان ژورنال: Nature Biotechnology
سال: 2011
ISSN: 1087-0156,1546-1696
DOI: 10.1038/nbt.2043