Searching journal content for articles similar to Womack 15 (12): 1699.

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  1. ...increased, opening exciting new avenues for studying human evolution. Here, we review recent methodological advances in the study of archaic introgression. We begin by providing an overview of the genealogical and genomic signatures left behind by introgression events before reviewing recent methods...
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  2. ...annotation for a cystic fibrosis–causing indel in GM07829. This work underscores the growing readiness of ONT for clinical applications, highlighting both its advancements and its potential for broader adoption in clinical genomics and large-scale operations.The advent of long-read sequencing (LRS) enabled...
  3. ...of the three methods, see Supplemental Text S3.The most popular tool, measured by citations to date, and the tool we will use for all the examples below, is GenomeScope 2.0, which also includes support for polyploid s and more advanced model-fitting methods (Ranallo-Benavidez et al. 2020). We will use...
  4. ...the reference, such as disease- and trait-associated variants or engineered sequences. Recent work has applied synthetic regulatory genomics to characterized dozens of deletions, inversions, and rearrangements of DNase I hypersensitive sites (DHSs). Here, we use the state-of-the-art model Enformer to predict...
  5. ...and to associated organs including the liver and pancreas. We used functional genomic approaches to identify highly conserved endodermal cis-regulatory modules (CRMs) functioning across the 400 million years of evolution separating zebrafish and humans. Our analyses suggest that there are few endoderm-specific CRMs...
  6. ...in Europe through the designation of ESUs.As sequencing technology advances and costs decrease, high-quality reference s are becoming increasingly recognized as an essential resource for conservation genomics (Brandies et al. 2019; Formenti et al. 2022; Paez et al. 2022; Theissinger et al. 2023). When...
  7. ...-resolved assemblies have become the norm in eukaryotic genomics with advances in long-read sequencing technologies. Complete assemblies are fundamental for addressing key questions in biology that were previously hidden in the “dark matter” of s. Key breakthroughs have revolved around centromeres and the embedded...
  8. ..., are revolutionizing research by providing high-resolution insights into complex and repetitive regions of the human that were previously inaccessible. These advances have been particularly enabling for the comprehensive detection of genomic structural variants (SVs), which is critical for linking genotype...
  9. ...by National Institutes of Health grants UH3HL145609 (Common Fund) and R01AG066028 (National Institute on Aging) (to G.-C.Y.).Footnotes Article and publication date are at https://www..org/cgi/doi/10.1101/gr.275224.121. Freely available online through the Genome Research Open Access option © 2021 Dries et al...
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  10. ...tapes. How, then, can we fill an entire special issue of Genome Research with “new advances” so many years later? To me, this reflects the beauty of the problem—simple enough to be stated in a single paragraph, yet complex enough to sustain a field of research for decades. This dichotomy is common...
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