Articles with "duplex sequencing" as a keyword



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Genetic toxicity testing using human in vitro organotypic airway cultures: Assessing DNA damage with the CometChip and mutagenesis by Duplex Sequencing

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Published in 2021 at "Environmental and Molecular Mutagenesis"

DOI: 10.1002/em.22444

Abstract: The organotypic human air‐liquid‐interface (ALI) airway tissue model has been used as an in vitro cell culture system for evaluating the toxicity of inhaled substances. ALI airway cultures are highly differentiated, which has made it… read more here.

Keywords: dna damage; airway cultures; toxicity; duplex sequencing ... See more keywords
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Abstract 6522: Improved detection of low frequency mutations in ovarian and endometrial cancers by utilizing a highly accurate sequencing platform

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Published in 2023 at "Cancer Research"

DOI: 10.1158/1538-7445.am2023-6522

Abstract: Ovarian and endometrial cancers come within the top-4 for incident cancers as well as deaths in North American women. Cure rates have not improved in 30 years as high-grade subtypes continue to be diagnosed in… read more here.

Keywords: ovarian endometrial; endometrial cancers; accurate sequencing; highly accurate ... See more keywords
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Abstract LB254: Accurate detection of low frequency AML-associated mutations in vitro using Duplex Sequencing with enzymatic fragmentation

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Published in 2023 at "Cancer Research"

DOI: 10.1158/1538-7445.am2023-lb254

Abstract: Sensitive and specific detection of low frequency mutations in acute myeloid leukemia (AML) is critical in research of minimal residual disease (MRD). At variant allele frequencies (VAF) below approximately 1%, PCR and sequencing errors result… read more here.

Keywords: dna; fragmentation; low frequency; detection low ... See more keywords
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Duplex Sequencing Accurately Detects Variants below 1/100,000 in Genes Recurrently Mutated in Acute Myeloid Leukemia

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Published in 2018 at "Blood"

DOI: 10.1182/blood-2018-99-115071

Abstract: Acute myeloid leukemia (AML) is a challenging disease to treat: most patients achieve remission after induction chemotherapy, but the majority eventually relapse. Minimal residual disease (MRD) after initial treatment is the best predictor of relapse… read more here.

Keywords: dna; 100 000; duplex; duplex sequencing ... See more keywords
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Family reunion via error correction: an efficient analysis of duplex sequencing data

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Published in 2020 at "BMC Bioinformatics"

DOI: 10.1186/s12859-020-3419-8

Abstract: Background Duplex sequencing is the most accurate approach for identification of sequence variants present at very low frequencies. Its power comes from pooling together multiple descendants of both strands of original DNA molecules, which allows… read more here.

Keywords: analysis; duplex sequencing; error correction; duplex ... See more keywords
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Age-related accumulation of de novo mitochondrial mutations in mammalian oocytes and somatic tissues

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Published in 2020 at "PLoS Biology"

DOI: 10.1371/journal.pbio.3000745

Abstract: Mutations create genetic variation for other evolutionary forces to operate on and cause numerous genetic diseases. Nevertheless, how de novo mutations arise remains poorly understood. Progress in the area is hindered by the fact that… read more here.

Keywords: accumulation; oocytes somatic; novo mutations; duplex sequencing ... See more keywords