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   Articles with "sequence read" as a keyword



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Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes

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recommendations! Published in 2017 at "American Journal of Human Genetics"

DOI: 10.1016/j.ajhg.2017.09.013

Abstract: Short tandem repeats (STRs) are hyper-mutable sequences in the human genome. They are often used in forensics and population genetics and are also the underlying cause of many genetic diseases. There are challenges associated with… read more here.

Keywords: short tandem; genetics; repeat; disease ... See more keywords
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In depth search of the Sequence Read Archive database reveals global distribution of the emerging pathogenic fungus Scedosporium aurantiacum

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recommendations! Published in 2022 at "Medical Mycology"

DOI: 10.1093/mmy/myac019

Abstract: Abstract Scedosporium species are emerging opportunistic fungal pathogens causing various infections mainly in immunocompromised patients, but also in immunocompetent individuals, following traumatic injuries. Clinical manifestations range from local infections, such as subcutaneous mycetoma or bone… read more here.

Keywords: database; sequence read; scedosporium; distribution ... See more keywords
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VARUS: sampling complementary RNA reads from the sequence read archive

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recommendations! Published in 2019 at "BMC Bioinformatics"

DOI: 10.1186/s12859-019-3182-x

Abstract: BackgroundVast amounts of next generation sequencing RNA data has been deposited in archives, accompanying very diverse original studies. The data is readily available also for other purposes such as genome annotation or transcriptome assembly. However,… read more here.

Keywords: read archive; annotation; varus; genome annotation ... See more keywords
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“METAGENOTE: a simplified web platform for metadata annotation of genomic samples and streamlined submission to NCBI’s sequence read archive”

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recommendations! Published in 2020 at "BMC Bioinformatics"

DOI: 10.1186/s12859-020-03694-0

Abstract: Background The improvements in genomics methods coupled with readily accessible high-throughput sequencing have contributed to our understanding of microbial species, metagenomes, infectious diseases and more. To maximize the impact of these genomics studies, it is… read more here.

Keywords: read archive; metagenote; submission; annotation ... See more keywords