Searching journal content for articles similar to Smith et al. 19 (10): 1836.

Displaying results 1-10 of 103
For checked items
  1. ...-read sequencing technologies are enabling even larger population studies, enhancing our ability to associate genetic variations—particularly those previously undetectable—with human diversity, disease, and other phenotypes. For example, in 2021, the deCODE genetics initiative generated a major large-scale long...
    OPEN ACCESS ARTICLE
  2. ..., Canada; 3Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA Corresponding authors: karine.choquet@usherbrooke.ca, churchman@genetics.med.harvard.eduAbstractQuantitative trait loci analyses have revealed an important role for genetic variants in regulating alternative...
  3. ...RNAs show enrichment for GWAS-associated disease SNPs. We conclude that deep sequencing of short capped RNAs reveals new families of noncoding RNAs and elucidates the diversity of transcripts generated at known and novel promoters and enhancers.In eukaryotes, gene transcription by RNA polymerase (Pol...
  4. ...RNA.Such variations in the sequence present in mature RNA molecules—which we term “RNA variables” (Foord et al. 2023)—contribute to the complexity of isoform expression, which can broaden the diversity of phenotype across cells, cell types, tissues, organs, and individuals. For instance, a shift toward the more...
    OPEN ACCESS ARTICLE
  5. ...be explained by an allelic skew in X-Chromosome inactivation. Accurate measurement of X inactivation skew is crucial to understand and predict disease phenotype in carrier females, with prediction especially relevant for degenerative conditions. We propose a novel approach using nanopore sequencing to quantify...
  6. ...in human blood using targeted amplification-free long-read sequencing. Hum Mutat 39: 1262–1272. doi:10.1002/humu.23580 ↵Johansson J, Lidéus S, Höijer I, Ameur A, Gudmundsson S, Annerén G, Bondeson ML, Wilbe M. 2023. A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore...
  7. ...Ezequiel Calvo-Roitberg, Rachel F. Daniels and Athma A. Pai RNA Therapeutics Institute, University of Massachusetts Chan Medical School, Worcester, Massachusetts 01605, USA Corresponding author: athma.pai@umassmed.eduAbstractLong-read sequencing (LRS) technologies have the potential...
  8. ...to the problem this manuscript attempts to tackle, an alternative avenue exists to relate cellular genotype and phenotype via separately sequencing single-cell DNA and RNA followed by data integration (clonealign) (Campbell et al. 2019). Finally, a method (PhyloIEx [Jun et al. 2023]) has been developed very...
  9. ...-cell sequencing techniques, numerous analytical methods have been developed for delineating cell development. However, most are based on Euclidean space, which would distort the complex hierarchical structure of cell differentiation. Recently, methods acting on hyperbolic space have been proposed to visualize...
  10. ...of application as it is primarily designed for decomposing the data with low resolution from sequencing-based technologies, such as 10x Visium. Some other methods, such as SpaGCN (Hu et al. 2021) and stLearn (Pham et al. 2020), use deep neural networks, such as CNN and GCN, to analyze the sp-scRNA-seq data...
For checked items

Preprint Server