Articles with "hifi sequencing" as a keyword



Evaluation of the mutagenic effects of Molnupiravir and N4‐hydroxycytidine in bacterial and mammalian cells by HiFi sequencing

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Published in 2022 at "Environmental and Molecular Mutagenesis"

DOI: 10.1002/em.22510

Abstract: Molnupiravir (MOV) is used to treat COVID‐19. In cells, MOV is converted to the ribonucleoside analog N4‐hydroxycytidine (NHC) and incorporated into the SARS‐CoV‐2 RNA genome during its replication, resulting in RNA mutations. The widespread accumulation… read more here.

Keywords: molnupiravir hydroxycytidine; mutagenic effects; effects molnupiravir; evaluation mutagenic ... See more keywords

Long‐read HiFi sequencing of NUDT15: Phased full‐gene haplotyping and pharmacogenomic allele discovery

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Published in 2022 at "Human Mutation"

DOI: 10.1002/humu.24457

Abstract: To determine the phase of NUDT15 sequence variants for more comprehensive star (*) allele diplotyping, we developed a novel long‐read single‐molecule real‐time HiFi amplicon sequencing method. A 10.5 kb NUDT15 amplicon assay was validated using… read more here.

Keywords: read hifi; hifi; full gene; long read ... See more keywords

Abstract 2934: Somatic variant workflow with HiFi sequencing provides new insights in highly challenging cancer cases

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Published in 2024 at "Cancer Research"

DOI: 10.1158/1538-7445.am2024-2934

Abstract: Tumor evolution is a highly heterogeneous process where multiple oncogenic pathways can lead to host defense evasion. Advancements in genome sequencing are allowing us to better understand these processes and their impact. However, critical genomic… read more here.

Keywords: cancer; structural variants; somatic variant; hifi sequencing ... See more keywords

Implementing Hifi Sequencing for Enhanced Genomic and Methylome Characterization in Multiple Myeloma

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Published in 2024 at "Blood"

DOI: 10.1182/blood-2024-207422

Abstract: Introduction: Over recent years, the introduction and scalability of next-generation sequencing technologies have significantly expanded our knowledge of the genetic underpinnings of multiple myeloma (MM), a heterogeneous hematologic malignancy characterized by clonal plasma cell proliferation… read more here.

Keywords: multiple myeloma; short read; analysis; coverage ... See more keywords