Articles with "functional elements" as a keyword



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Comprehensive evaluation of disease- and trait-specific enrichment for eight functional elements among GWAS-identified variants

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Published in 2017 at "Human Genetics"

DOI: 10.1007/s00439-017-1815-6

Abstract: Genome-wide association study (GWAS)-identified variants are enriched for functional elements. However, we have limited knowledge of how functional enrichment may differ by disease/trait and tissue type. We tested a broad set of eight functional elements… read more here.

Keywords: trait; functional elements; disease trait; eight functional ... See more keywords
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Distinct functional elements for outer-surface anti-interference and inner-wall ion gating of nanochannels

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Published in 2018 at "Nature Communications"

DOI: 10.1038/s41467-018-06873-z

Abstract: Over the decades, widespread advances have been achieved on nanochannels, including nanochannel-based DNA sequencing, single-molecule detection, smart sensors, and energy transfer and storage. However, most interest has been focused on the contribution from the functional… read more here.

Keywords: functional elements; inner wall; interference; outer surface ... See more keywords
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Location deviations of DNA functional elements affected SNP mapping in the published databases and references

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Published in 2020 at "Briefings in bioinformatics"

DOI: 10.1093/bib/bbz073

Abstract: The recent extensive application of next-generation sequencing has led to the rapid accumulation of multiple types of data for functional DNA elements. With the advent of precision medicine, the fine-mapping of risk loci based on… read more here.

Keywords: functional elements; location; mapping; deviations dna ... See more keywords