Searching journal content for articles similar to Springer and Stupar 17 (3): 264.

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  1. ...greater genomic evolutionary rate profiling (GERP) scores than exposed residues, indicating that buried residues are under stronger purifying selection. The design of the maize nested association mapping population makes it possible to utilize haplotype information and protein 3D structural variation...
  2. ...of deleterious variants at intermediate allele frequencies, facilitating trait mapping at relatively modest sample sizes (Manolio et al. 2009; Locke et al. 2019). These features, coupled with extensive prior knowledge of Finnish genetics, make this an ideal cohort to test new trait mapping methods...
  3. ...are needed in order to properly capture the genetic composition of populations. Here, we explore deep learning techniques, namely, variational autoencoders (VAEs), to process genomic data from a population perspective. We show the power of VAEs for a variety of tasks relating to the interpretation...
  4. ...of rapid demographic change. Temperate maize has been subject to population bottlenecks and inbreeding (Bouchet et al. 2013; Li et al. 2017) and thus harbors less genetic variation compared with tropical maize (Romay et al. 2013). Inbreeding can result in the purging of deleterious alleles when recessive...
  5. ...conditions, possibly due to a higher proportion of petite cells. 449 Conversely, introduction of the W303 SAL1-nfs allele into BY increased colony size in multiple 450 conditions, possibly by decreasing petite formation. 451 While CRI-SPA-Map is effective and efficient at mapping genetic variation...
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  6. ...within reads (Narzisi and Schatz 2015; Mousavi et al. 2019), affecting mappability to a reference . Some SRS STR genotyping tools can estimate larger-than-read-length allele sizes (Dolzhenko et al. 2017; Dolzhenko et al. 2019; Mousavi et al. 2019) but cannot capture variation in motif structure nor...
  7. ...annotation databases offer limited functional insights for sSNVs. Here, we present SynMall, a comprehensive resource designed to decipher the functional impact of synonymous variation. SynMall catalogs 25 million potential human sSNVs and integrates evolutionary and population information of sSNVs from 45...
  8. ...target expression variation and covariation, but these observations have been limited to a few microRNAs. Here we systematically study microRNA alternative functions in mouse embryonic stem cells (mESCs) by genetically deleting Drosha, leading to global loss of microRNAs. We apply complementary single...
  9. ...-CHM13 reference thus facilitates enhanced discovery of new disease-causing variation, benefiting, for example, rare-disease diagnostics.The first draft of the human reference was published by the Human Genome Sequencing Consortium in 2001 (International Human Genome Sequencing Consortium 2001). Since...
  10. ...iso-1 and A3 possess two private alleles on the H1 background. This is consistent with their origins—A4 was collected from Zimbabwe which is geographically very close to Zambia, whereas A3 originates from Spain, and the origin of iso-1 is uncertain.Structural variation in the Stellate clusters...
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