Searching journal content for articles similar to Mountain et al. 12 (11): 1766.

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  1. ...SNPs for which v1 has an alternate allele. We stratify the error types because they appear with different frequencies. rtoa and ator differ owing to reference bias: If a read comes from a haplotype with a true alternate allele, it may systematically align with the reference allele incorrectly...
  2. ...structure into continuous representations that can be seamlessly integrated into genetic analysis pipelines. Using both simulated data sets and empirical data from the UK Biobank (N ≈ 420,000), we demonstrate that SPCs outperform PCs in adjusting for fine-scale population structure. In simulations, SPCs...
  3. ...-truth sequences. It compares favorably to the existing methods. MethodsOverviewOur method, pan-based haplotype inference (PHI), takes as input a pan graph reference and short-read sequencing data from a target haploid . We assume that the given pan graph has been constructed using high-quality, haplotype...
  4. ...more general single-cell genotypes and mutation models remains a research question.Applying ScisTree2 in studies of cancer biology and stem cell biologyInference of the cell lineage tree is very relevant to single-cell cancer genomics. For example, finding clonal populations is a common problem...
  5. ...to annotate samples based on cell-type composition. By comparing aggregation strategies, we find that regressing confounders within studies and prioritizing larger studies optimizes network reconstruction. We apply these findings to infer three consensus networks (universal, cancer, noncancer) and 27 context...
  6. ...previously inferred from amplicon sequencing in combination with segregation studies or from STR-typing strategies, a genomic map is lacking (Doxiadis et al. 2000, 2013; de Groot et al. 2017, 2022). Hence, the enigma persists for the biological mechanism that makes the DRB region prone to expansion...
  7. ...-modal setting in which, for example, one data modality is “undercharacterized”; that is, we are missing measurements of that modality in one or more conditions or time points of interest. Although several existing methods have been developed for this type of cross-modal inference, they were developed for bulk...
  8. ...and to establish a database of alleles of V and J genes inferred from AIRR-seq data and their population frequencies with free public access through VDJ.online database.Adaptive immune repertoire diversity plays a crucial role in shaping the immune response and forming immunological memory. Most immune repertoire...
  9. ...functional predictions of ERC have been empirically validated, its predictive power has hitherto been limited by its inability to tackle the large numbers of species in contemporary comparative genomics data sets. This study introduces ERC2.0, an enhanced methodology for studying ERC across phylogenies...
  10. ...to an external reference population and, hence, are susceptible to varying inference depending on the reference used.We developed Bayesian optimized networks obtained by assimilating omic data (BONOBO), an empirical Bayesian model that derives individual sample-specific coexpression networks (Fig. 1...
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