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  1. ...1 Title 1 Single-nucleus multiomic profiling of the aging mouse substantia nigra reveals 2 conserved gene alterations linked to Parkinson’s disease 3 Running title: Substantia nigra aging linked to Parkinson 4 Kangli Wang1, Weikun Xia1, Yingli Gu1, Songpeng Zu1, Qian Yang2, Maria Luisa Amaral1...
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  2. ...Xiu Fan1,2,10, Qili Qian3,4,10, Wenran Li3,4, Tianzi Liu3,4, Changqing Zeng1,2,5, Peilin Jia1,2, Huandong Lin6, Xin Gao6, Li Jin4,7, Mingfeng Xia6, Sijia Wang3,8 and Fan Liu1,9 1China National Center for Bioinformation, Beijing 100101, China; 2Beijing Institute of Genomics, Chinese Academy...
  3. ...such as compaction and accessibility, whereas endogenous DNA allows for in cellulo analysis under physiological conditions. Similarly, proteins can be purified and studied in vitro, expressed exogenously from a plasmid, or endogenously produced within the cell from genomic DNA. Although plasmid-based expression...
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  4. ...is accompanied by the formation of de novo enhancer contacts and activation of MYC, illustrating how structural genomic variants can alter the 3D during oncogenesis. In summary, our findings provide evidence for the loss of organization at multiple scales during breast cancer progression, revealing novel...
  5. ...contributed equally to this work. Corresponding authors: thomas.near@yale.edu, clad@ihb.ac.cn, yangliandong1987@163.comAbstractGenomic evolution can propel and restrict species diversification. Rapid molecular evolution and genomic rearrangement is often associated with increased species diversification...
  6. ...of differentially methylated regions (DMRs) typically involves the detection of consecutive CpGs groups that show significant changes in their average methylation levels. However, the methylation state of a genomic region can also be characterized by a mixture of patterns (epialleles) with variable frequencies...
  7. ...parallel signature sequencing. Nat Biotechnol 22: 1006–11. Misra S, Crosby MA, Mungall CJ, Matthews BB, Campbell KS, Hradecky P, Huang Y, Kaminker JS, Millburn GH, Prochnik SE, et al. 2002. Annotation of the Drosophila melanogaster euchromatic : a systematic review. Genome Biol 3: RESEARCH0083. Neeman Y...
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  8. ...Bafna1,4 1Department of Computer Science and Engineering, University of California San Diego, La Jolla, California 92093, USA; 2Bionano Genomics, Incorporated, San Diego, California 92121, USA; 3Institute of Medical Genetics, Center for Pathobiochemistry and Genetics, Medical University of Vienna, 1090...
  9. ...remains limited owing to dearth of subsequent proteogenomic consequences. To coalesce the genomic information embedded in exons with isoform sequences, we present an innovative framework, “Exon Nomenclature And Classification of Transcripts” (ENACT). This centralizes exonic loci such that protein sequence...
  10. ...coverage requirements, sensitivity, and specificity in other imprinted regions and for mosaic alterations for clinical applications.EpimutationsIn genomic diagnostics, it is crucial to determine if variants occur in cis (same chromosome) or in trans (opposite chromosomes). This is particularly valuable...
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