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Published in 2019 at "Journal of Medical Virology"
DOI: 10.1002/jmv.25361
Abstract: Direct genotyping of adenovirus or enterovirus from clinical material using polymerase chain reaction (PCR) followed by Sanger sequencing is often difficult due to the presence of multiple virus types in a sample, or due to…
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Keywords:
parallel amplicon;
massive parallel;
amplicon sequencing;
adenovirus enterovirus ... See more keywords
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Published in 2018 at "Forensic science international"
DOI: 10.1016/j.forsciint.2018.09.034
Abstract: Cases of sudden cardiac death (SCD) in young and apparently healthy individuals represent a devastating event in affected families. Hereditary arrhythmia syndromes, which include primary electrical heart disorders as well as cardiomyopathies, are known to…
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Keywords:
death;
postmortem genetic;
genetic analyses;
parallel sequencing ... See more keywords
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Published in 2017 at "Forensic Science International: Genetics Supplement Series"
DOI: 10.1016/j.fsigss.2017.09.070
Abstract: Abstract Callithrix aurita is a native small primate species from the Brazilian Southeastern Atlantic mountains. Considered as vulnerable and figuring the IUCN Red List, the species currently struggles with a reduced population size and faces…
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Keywords:
massive parallel;
hiseq 2500;
callithrix aurita;
2500 platform ... See more keywords
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Published in 2019 at "Reproductive BioMedicine Online"
DOI: 10.1016/j.rbmo.2019.04.090
Abstract: Introduction the accuracy results of preimplantation genetic testing of embryos for aneuploidy (PGT-A) by massive parallel sequencing directly depends on the effectiveness of the quality control. The aim of this study was to analyze the…
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Keywords:
quality;
genetic testing;
parallel sequencing;
pgt ... See more keywords
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Published in 2017 at "Systems Biology in Reproductive Medicine"
DOI: 10.1080/19396368.2017.1312633
Abstract: ABSTRACT Novel next-generation sequencing procedures have rapidly emerged into the preimplantation genetic screening framework. This work presents the design and validation of a new low-coverage whole-genome sequencing assay for aneuploidy detection in single blastomeres and…
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Keywords:
human embryos;
new protocol;
based massive;
preimplantation ... See more keywords
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Published in 2017 at "BMC Bioinformatics"
DOI: 10.1186/s12859-017-1552-9
Abstract: BackgroundToday, sequencing is frequently carried out by Massive Parallel Sequencing (MPS) that cuts drastically sequencing time and expenses. Nevertheless, Sanger sequencing remains the main validation method to confirm the presence of variants. The analysis of…
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Keywords:
method compare;
statistical method;
method;
parallel sequencing ... See more keywords
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Published in 2020 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2020.01351
Abstract: Population-specific profiling of mutations in cancer genes is of critical importance for the understanding of cancer biology in general as well as the establishment of optimal diagnostics and treatment guidelines for that particular population. Although…
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Keywords:
ultra deep;
large scale;
massive parallel;
deep massive ... See more keywords