Articles with "pacbio hifi" as a keyword



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Genome‐wide detection of ultralow‐frequency substitution mutations in cultures of mouse lymphoma L5178Y cells and Caenorhabditis elegans worms by PacBio sequencing

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Published in 2022 at "Environmental and Molecular Mutagenesis"

DOI: 10.1002/em.22473

Abstract: Many conventional genetic toxicology assays require specialized cell cultures or animals and can only detect mutations that inactivate the function of a reporter gene. These limitations make such assays incompatible with many toxicological models but… read more here.

Keywords: elegans worms; pacbio sequencing; genome wide; detection ... See more keywords
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Abstract LB078: pbfusion: Detecting gene-fusion and other transcriptional abnormalities using PacBio HiFi data

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Published in 2023 at "Cancer Research"

DOI: 10.1158/1538-7445.am2023-lb078

Abstract: Sarcomas are a broad group of soft tissue and bone cancers that can be difficult to treat leading to a high mortality rate. Sarcomas comprise two broad genomic classes: (1) simple karyotypes, where a single… read more here.

Keywords: fusion; pbfusion; hifi data; gene ... See more keywords