Publications by authors named "J R Sibert"

Background: Escherichia coli C forms more robust biofilms than other laboratory strains. Biofilm formation and cell aggregation under a high shear force depend on temperature and salt concentrations. It is the last of five E.

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Article Synopsis
  • Large structural variants (SVs) in the human genome are typically hard to detect with standard sequencing methods, but long-range genome analysis techniques like optical mapping can effectively identify SVs greater than 2 kb in one go.
  • In a study involving 154 individuals from the 1000 Genomes Project, researchers found that large SV patterns closely match the patterns of single nucleotide variations across 86% of the genome, while about 2% show significant structural complexity.
  • The study also revealed previously uncharacterized regions of the genome, including segmental duplications and areas near chromosomes' ends, identifying roughly 60 Mb of unique genomic content missing from the current reference genome, emphasizing the need for diverse population haplotypes to accurately
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We present a new method, OMSV, for accurately and comprehensively identifying structural variations (SVs) from optical maps. OMSV detects both homozygous and heterozygous SVs, SVs of various types and sizes, and SVs with or without creating or destroying restriction sites. We show that OMSV has high sensitivity and specificity, with clear performance gains over the latest method.

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We have developed a novel method that enables global subtelomere and haplotype-resolved analysis of telomere lengths at the single-molecule level. An in vitro CRISPR/Cas9 RNA-directed nickase system directs the specific labeling of human (TTAGGG)n DNA tracts in genomes that have also been barcoded using a separate nickase enzyme that recognizes a 7-bp motif genome-wide. High-throughput imaging and analysis of large DNA single molecules from genomes labeled in this fashion using a nanochannel array system permits mapping through subtelomere repeat element (SRE) regions to unique chromosomal DNA while simultaneously measuring the (TTAGGG)n tract length at the end of each large telomere-terminal DNA segment.

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