6 Result(s)
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Article
Open AccessSquiggleNet: real-time, direct classification of nanopore signals
We present SquiggleNet, the first deep-learning model that can classify nanopore reads directly from their electrical signals. SquiggleNet operates faster than DNA passes through the pore, allowing real-time c...
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Article
Open AccessComprehensive identification of somatic nucleotide variants in human brain tissue
Post-zygotic mutations incurred during DNA replication, DNA repair, and other cellular processes lead to somatic mosaicism. Somatic mosaicism is an established cause of various diseases, including cancers. How...
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Article
Open AccessTranslation of upstream open reading frames in a model of neuronal differentiation
Upstream open reading frames (uORFs) initiate translation within mRNA 5′ leaders, and have the potential to alter main coding sequence (CDS) translation on transcripts in which they reside. Ribosome profiling ...
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Article
Open AccessFusorSV: an algorithm for optimally combining data from multiple structural variation detection methods
Comprehensive and accurate identification of structural variations (SVs) from next generation sequencing data remains a major challenge. We develop FusorSV, which uses a data mining approach to assess performance...
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Article
Open AccessResolving complex structural genomic rearrangements using a randomized approach
Complex chromosomal rearrangements are structural genomic alterations involving multiple instances of deletions, duplications, inversions, or translocations that co-occur either on the same chromosome or repre...
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Open AccessRefinement of primate copy number variationhotspots identifies candidate genomic regions evolving under positive selection
Copy number variants (CNVs), defined as losses and gains of segments of genomic DNA, are a major source of genomic variation.
