Searching journal content for articles similar to Chen et al. 31 (5): 934.

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  1. ...for application of phasing small targeted genes.We present an easy-to-use and easy-to-automate single-tube linked-read library method that can cost-effectively generate long-range information from short-read NGS systems. The lengths of many linked molecules generated from sub-nanogram to nanogram input material...
  2. ...Accurate short-read alignment through r-index-based pan indexing Rahul Varki1,4, Massimiliano Rossi1,4, Eddie Ferro1, Marco Oliva1, Erik Garrison2, Ben Langmead3 and Christina Boucher1 1Department of Computer and Information Science and Engineering, University of Florida, Gainesville, Florida 32611...
  3. ...A prospective trial comparing programmable targeted long-read sequencing and short-read sequencing for genetic diagnosis of cerebellar ataxia Haloom Rafehi1,2,43, Liam G. Fearnley1,2,43, Justin Read3,4,43, Penny Snell3, Kayli C. Davies3,5, Liam Scott1, Greta Gillies3, Genevieve C. Thompson3,5, Tess...
  4. ...short-read sequences. Recent advances in long-read isoform sequencing enable the detection of fusion transcripts at unprecedented resolution in bulk and single-cell samples. Here, we developed a new computational tool, CTAT-LR-Fusion, to detect fusion transcripts from long-read RNA-seq with or without...
  5. ...computational toolkit for genotyping the variable genes of the IG lambda and kappa, and the TR loci with short-read whole sequence data, using an integer linear programming formulation, as an update to the ImmunoTyper-SR suite, which focused on IGHV region only. We evaluate its genotyping performance using...
  6. ...generation were described previously (Li et al. 2024). Briefly, scRNA-seq cDNA and library were generated using 10x Genomics Chromium Single cell 3′ Reagents Kits v2 and v3, following the manufacturer's instructions. The short-read sequencing library was sequenced on an Illumina NovaSeq 6000 sequencer (151...
  7. ...maps to visualize and correct misassemblies (Howe et al. 2021a).View larger version: In this window In a new window Figure 1. Genome assembly pipeline and data inputs. Illumina short-read sequencing was generated by the Medical College of Wisconsin (MCW) and used for assembly polishing. PacBio CLR...
  8. ...are reduced by the consensus of multiple (≥3) repeats. NanoRCS offers a precise, multimodal nanopore sequencing-based strategy for cfDNA sequencing through the accurate identification of tumor-informed SNVs along with CNAs and fragmentation length patterns in cfDNA (Fig. 1D).View larger version...
  9. ...of the respective tests). Also, the read size of short-read sequencing methods has proven to be too limited to accurately detect all repeat expansions, and long-read sequencing is still not routinely used in most laboratories and is currently too expensive, while it allows the detection of an increasing amount...
  10. ...authors: bpeters@completegenomics.com, rdrmanac@completegenomics.com, xuxun@genomics.cnAbstractHere, we describe single-tube long fragment read (stLFR), a technology that enables sequencing of data from long DNA molecules using economical second-generation sequencing technology. It is based on adding...
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