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  1. ..., with the latter being the more widely used/reference annotations (for historical reasons).To study genetic variation, significant efforts have been made to identify variants on a large scale from high-throughput short DNA read sequencing, for example, via the 3000 Rice Genomes Project (Li et al. 2014; Wang et al...
  2. ...,330,360 SNPs, 204,030 insertions (1–50 bp), 162,675 deletions (1–50 bp), 1547 structural variants (SVs, >50 bp), 444,289 inversions, and 334,833 translocations within the syntenic blocks of the assemblies (Fig. 2B). We observed that most insertions and deletions were predominantly under 50 bp in length...
  3. ...conducted using Canu, quality control was conducted with BUSCO and Quast, and a visual comparison was conducted with MUMmer (see Supplemental Methods; Kurtz et al. 2004; Simão et al. 2015; Koren et al. 2017; Mikheenko et al. 2018; Manni et al. 2021).Genome-wide structural variant and transposable element...
  4. ...bp (De Coster et al. 2019; Mahmoud et al. 2019). Nevertheless, SRS remains the workhorse of genomics, producing many of the whole- and whole-exome data sets to study rare and complex diseases. Although SRS can readily identify single-nucleotide variants (SNVs) associated with disease, it often fails...
  5. ...studies may overlook. On the other hand, analyses of genomic variation frequently reveal a complex interplay among sequence changes, including single-nucleotide polymorphisms (SNPs) and structural variations (SVs), which are associated with altered gene expression and phenotypic traits (Collins et al...
  6. ..., a particular gene of interest (GOI) remains a persistent experimental and conceptual challenge. This gene-centric question is complicated by the multilayered regulatory environment in which each gene resides, comprising 3D chromatin structure, enhancer–promoter looping, DNA accessibility, histone modifications...
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  7. ...310022, China; 9State Key Laboratory for Macromolecule Drugs and Large-scale Manufacturing, School of Pharmaceutical Sciences, Wenzhou Medical University, Wenzhou 325030, China ↵10 These authors contributed equally to this work. Corresponding authors: wuyf@immunol.org, reny@genomics.cn, jingang...
  8. ...improves genomic prediction accuracyWe assessed the additional contributions of protein structure variation to the genomic variance of the 32 traits in the NAM population by performing variance partitioning using a genomic prediction model. Because the genotypic variants used for association are not fully...
  9. ...Wei-Hao Lee1,5, Lechuan Li2,5, Ruth Dannenfelser2 and Vicky Yao2,3,4 1Systems, Synthetic, and Physical Biology, Rice University, Houston, Texas 77005, USA; 2Department of Computer Science, Rice University, Houston, Texas 77005, USA; 3Ken Kennedy Institute, Rice University, Houston, Texas 77005, USA...
  10. ...Rashid Al-Abri1,2 and Gamze Gürsoy1,2,3 1Department of Biomedical Informatics, Columbia University, New York, New York 10032, USA; 2New York Genome Center, New York, New York 10013, USA; 3Department of Computer Science, Columbia University, New York, New York 10027, USA Corresponding author: gamze...
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