Articles with "hifi" as a keyword



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

Analyzing rare mutations in metagenomes assembled using long and accurate reads

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Published in 2022 at "Genome Research"

DOI: 10.1101/gr.276917.122

Abstract: The advent of long and accurate “HiFi” reads has greatly improved our ability to generate complete metagenome-assembled genomes (MAGs), enabling “complete metagenomics” studies that were nearly impossible to conduct with short reads. In particular, HiFi… read more here.

Keywords: assembled using; rare mutations; hifi; mutations mags ... See more keywords

Improved Assembly of Metagenome-Assembled Genomes and Viruses in Tibetan Saline Lake Sediment by HiFi Metagenomic Sequencing

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Published in 2022 at "Microbiology Spectrum"

DOI: 10.1128/spectrum.03328-22

Abstract: To expand the understanding of microbial dark matter in the environment, we did the first comparative evaluation of multiple assembly strategies based on high-throughput short-read and HiFi data from lake sediments metagenomic sequencing. The results… read more here.

Keywords: short read; hifi; assembly; hifi data ... 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

Nanoclay-Reinforced Glass-Ionomer Cements: In Vitro Wear Evaluation and Comparison by Two Wear-Test Methods

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Published in 2017 at "Dentistry Journal"

DOI: 10.3390/dj5040028

Abstract: Glass ionomer cement (GIC) represents a major transformation in restorative dentistry. Wear of dental restoratives is a common phenomenon and the determination of the wear resistance of direct-restorative materials is a challenging task. The aim… read more here.

Keywords: glass ionomer; wear test; volume; glass ... See more keywords