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  1. Abstract Mobile element insertions (MEIs) are repetitive genomic sequences that contribute to genetic variation and can lead to genetic disorders. Targeted and whole-genome approaches using short-read sequencing have been developed to identify reference and non-reference MEIs; however, the read length hampers detection of these elements in complex genomic regions. Here, we pair Cas9-targeted nanopore sequencing with computational methodologies to capture active MEIs in human genomes. We demonstrate parallel enrichment for distinct classes of MEIs, averaging 44% of reads on-targeted signals and exhibiting a 13.4-54x enrichment over whole-genome approaches. We show an individual flow cell can recover most MEIs (97% L1Hs, 93% Alu Yb, 51% Alu Ya, 99% SVA_F, and 65% SVA_E). We identify seventeen non-reference MEIs in GM12878 overlooked by modern, long-read analysis pipelines, primarily in repetitive genomic regions. This work introduces the utility of nanopore sequencing for MEI enrichment and lays the foundation for rapid discovery of elusive, repetitive genetic elements. 
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  2. Abstract

    Consensus on the cause of recent midlatitude circulation changes toward a wavier manner in the Northern Hemisphere has not been reached, albeit a number of studies collectively suggest that this phenomenon is driven by global warming and associated Arctic amplification. Here, through a fingerprint analysis of various global simulations and a tropical heating-imposed experiment, we suggest that the suppression of tropical convection along the Inter Tropical Convergence Zone induced by sea surface temperature (SST) cooling trends over the tropical Eastern Pacific contributed to the increased summertime midlatitude waviness in the past 40 years through the generation of a Rossby-wave-train propagating within the jet waveguide and the reduced north-south temperature gradient. This perspective indicates less of an influence from the Arctic amplification on the observed mid-latitude wave amplification than what was previously estimated. This study also emphasizes the need to better predict the tropical Pacific SST variability in order to project the summer jet waviness and consequent weather extremes.

     
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  3. Abstract

    Catchment‐scale response functions, such as transit time distribution (TTD) and evapotranspiration time distribution (ETTD), are considered fundamental descriptors of a catchment's hydrologic and ecohydrologic responses to spatially and temporally varying precipitation inputs. Yet, estimating these functions is challenging, especially in headwater catchments where data collection is complicated by rugged terrain, or in semi‐arid or sub‐humid areas where precipitation is infrequent. Hence, we developed practical approaches for estimating both TTD and ETTD from commonly available tracer flux data in hydrologic inflows and outflows without requiring continuous observations. Using the weighted wavelet spectral analysis method of Kirchner and Neal [2013] for δ18O in precipitation and stream water, we calculated TTDs that contribute to streamflow via spatially and temporally variable flow paths in a sub‐humid mountain headwater catchment in Arizona, United States. Our results indicate that composite TTDs (a combination of Piston Flow and Gamma TTDs) most accurately represented this system for periods up to approximately 1 month, and that a Gamma TTD was most appropriate thereafter during both winter and summer seasons and for the overall time‐weighted TTD; a Gamma TTD type was applicable for all periods during the dry season. The TTD results also suggested that old waters, i.e., beyond the applicable tracer range, represented approximately 3% of subsurface contributions to streamflow. For ETTD and using δ18O as a tracer in precipitation and xylem waters, a Gamma ETTD type best matched the observations for all seasons and for the overall time‐weighted pattern, and stable water isotopes were effective tracers for the majority of vegetation source waters. This study addresses a fundamental question in mountain catchment hydrology; namely, how do the spatially and temporally varying subsurface flow paths that support catchment evapotranspiration and streamflow modulate water quantity and quality over space and time.

     
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