Searching journal content for articles similar to Qian et al. 27 (2): 185.

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  1. ...OGMThe molecular karyotype of a donor can be described as a collection of genomic sequences, each sequence corresponding to one donor chromosome. Traditionally, the karyotype information was captured by cytogenetics, albeit at low resolution, and helped identify balanced and unbalanced rearrangements...
  2. ...subclone-specific gene expression, we find that in one patient, BTK-mutated subclones are transcriptionally distinct from the rest of the malignant B cell population with an overexpression of CLL-relevant genes.Chronic lymphocytic leukemia (CLL) is the most prevalent subtype of leukemia in adults...
  3. .... In total, these results demonstrate the feasibility of whole transcriptome profiling of specific organ substructures to detect spatially variable disease-related abnormalities.Identifying organ substructure–specific transcriptomes in the developing mouse embryoAnother anticipated use of WTA is to catalog...
  4. ...a sample, reverse-transcribing it into stable cDNA, and finally sequencing using (mostly) Illumina technology (Bentley et al. 2008). RNA-seq has multiple technical variations, either to identify specific types of transcripts or to characterize other RNA products. For instance, small RNA sequencing (s...
  5. ...genomics studies aiming to identify and catalog driver mutations (Cortés-Ciriano et al. 2021), study tumor evolution (Gerstung et al. 2020), stratify cancers into clinical subtypes (Chakravarty and Solit 2021), and inform patient treatment (Sosinsky et al. 2024). Somatic variation in cancer is a result...
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  6. ..., Stanford University School of Engineering, Stanford, California 94305, USA Corresponding author: geleta@berkeley.eduAbstractModern biobanks are providing numerous high-resolution genomic sequences of diverse populations. In order to account for diverse and admixed populations, new algorithmic tools...
  7. ...), allow to produce sequences in the order of tens to hundreds of kilobases and to directly recognize base modifications, such as 5mC, thus allowing concomitant analyses of genomic and epigenomic changes (Magi et al. 2017, 2018, 2023a).Using Oxford Nanopore Technologies (ONT) and a novel computational...
  8. ...aberrant oncogene expression, which is dependent on both the genomic integration site and viral sequence composition. Beyond the well-characterized TERT promoter integration in sample T1, we identified a clinically significant HBV integration cluster upstream of the MYC TSS in sample T2 (56 supporting...
  9. ...for these altered transcripts was low (Fig. 4A,B). A comparison of scRaCH-seq efficiency in capturing the SF3B1 K700E mutation with whole transcriptome short-read sequencing (scRNA-seq) and long-read sequencing (scFLT-seq) revealed that scRaCH-seq significantly increased the capture of cells carrying the mutation...
  10. ...is primarily driven by differences in unalignable regionsWe next investigated the sequence divergences underpinning the larger sizes of C. nigoni strains relative to C. briggsae strains. To this end, we leveraged the genomic variation detection tool SyRI (Goel et al. 2019), which systematically identifies...
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