Searching journal content for articles similar to Wang et al. 17 (11): 1665.

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  1. ...High-resolution, genotype-free mapping of genetic 1 variation with CRI-SPA-Map 2 3 Sheila Lutz*, Megan Lawler†, Samuel Amidon†, Frank W. Albert* 4 Department of Genetics, Cell Biology, & Development, 5 University of Minnesota, 6 6-160 Jackson Hall, 321 Church St SE 7 Minneapolis, MN 55455, USA 8...
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  2. ...by the Genome Data Commons (GDC) Data Portal (Grossman et al. 2016). The choice of these patients was made due to the availability of the data on their somatic mutations and single-nucleotide polymorphisms (SNPs) in the International Cancer Genome Consortium (ICGC) and GDC data portals, respectively (Grossman...
  3. ...- sequencing is now requested for describing novel prokaryotic species and designating their type strains, which serve as representative and well-characterized strains of the species. Indeed, the number of sequenced prokaryotic s has been rapidly increasing. However, a considerable number of isolated strains...
  4. ..., and contrast several metrics (including the LD structure and the SNP entropy) of the simulated sequences with that of real sequences as a genotype simulation quality assessment.MethodsVariational autoencodersRepresentation learning, also known as feature learning, attempts to recover a compact set of so...
  5. ...genotypes proximate SNVs, whose locations are extracted from a user-provided VCF catalog file from, for example, dbSNP (Sherry et al. 2001). For diploid alleles, depending on what SNV data are present, STRkit either uses a Gaussian mixture model (GMM) allele-calling approach with copy numbers, segregates...
  6. ...regulation layers and the complex mechanisms controlling cellular function.Whereas PCL-seq achieves high-resolution spatial profiling within individual ROIs, broader applications are currently constrained by technical limitations in throughput and ROI discrimination. The moderate ligation efficiency (∼60...
  7. ...crossovers when applied to microarray data (Martin et al. 2015). WGS, with its much higher error rate, likely exacerbates this problem.Hidden Markov models (HMMs) have been used for decades to detect inheritance patterns and crossovers in family sequencing data (Lander and Green 1987; Kruglyak et al. 1996...
  8. ...14 putative pathogenic SNVs and indels, uncovered newly identified SINE-R/VNTR/Alu elements affecting the APC gene in two familial adenomatous polyposis patients, and demonstrated the utility of off-target reads from adaptive sampling for SNP genotyping, enabling polygenic risk score calculations...
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  9. ...TE annotation from Lien et al. (2016). The total TE annotation covered 51.92% of the . Consistent with previous findings (Goodier and Davidson 1994; Lien et al. 2016), the dominating TE group was DNA transposons from the Tc1-Mariner superfamily with more than 655,000 copies, covering 327 million base...
  10. ...per chromosome) (Palaiokostas et al. 2013; Feulner et al. 2018). However, individual interspersed sites did not show the expected genotype given their neighboring single-nucleotide polymorphisms (SNPs) (i.e., isolated homozygous sites in a block of heterozygous sites and vice versa). This would...
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