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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…
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Keywords:
read hifi;
hifi;
full gene;
long read ... See more keywords
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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…
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Keywords:
assembled using;
rare mutations;
hifi;
mutations mags ... See more keywords
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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…
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Keywords:
short read;
hifi;
assembly;
hifi data ... See more keywords
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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…
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Keywords:
cancer;
structural variants;
somatic variant;
hifi sequencing ... See more keywords
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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…
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Keywords:
multiple myeloma;
short read;
analysis;
coverage ... See more keywords
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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…
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Keywords:
glass ionomer;
wear test;
volume;
glass ... See more keywords