Searching journal content for articles similar to Dai et al. 33 (8): 1284.

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  1. ...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...
  2. ...and Salzberg 2020). These pans are frequently modeled as graphs (Garrison et al. 2018; Li et al. 2020), which work well to represent and detect structural variants (SVs), sequence alterations >50 bp, compared with reference-based short-read alignment (Mérot et al. 2020). Pangenomic approaches have proven...
  3. ..., Markello C, Sibbesen JA, Hickey G, Chang PC, Carroll A, et al. 2021. Pangenomics enables genotyping of known structural variants in 5202 diverse s. Science 374: abg8871. doi:10.1126/science.abg8871 ↵Sirén J, Eskandar P, Ungaro MT, Hickey G, Eizenga JM, Novak AM, Chang X, Chang PC, Kolmogorov M, Carroll A...
  4. ...al. 2022; Zheng et al. 2022). Therefore, to reveal the structure and function of microbial communities, we need to estimate their composition and abundance at finest resolution possible, that is, not only at the level of species, but also at the level of strains.For this study, we define a “strain...
  5. ...Corrigendum: A sheep pan reveals the spectrum of structural variations and their effects on tail phenotypes Ran Li, Mian Gong, Xinmiao Zhang, Fei Wang, Zhenyu Liu, Lei Zhang, Qimeng Yang, Yuan Xu, Mengsi Xu, Huanhuan Zhang, Yunfeng Zhang, Xuelei Dai, Yuanpeng Gao, Zhuangbiao Zhang, Wenwen Fang...
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  6. ...to comprehensively resolve structural variation. Here we build a pan from 16 HiFi haplotype-resolved cattle assemblies to identify small and structural variation and genotype them with PanGenie in 307 short-read samples. We find high (>90%) concordance of PanGenie-genotyped and DeepVariant-called small variation...
  7. ...assembly path similarities within the graph to reveal an association between two most likely serial alleles of a complex structural variant (SV) 66 kb upstream of KIT and facial depigmentation. The complex SV contains a variable number of tandemly duplicated 14.3 kb repeats, consisting of LTRs, LINEs...
  8. ...the ground-truth GIAB HG005 MHC variants (https://ftp-trace.ncbi.nlm.nih.gov/ReferenceSamples/giab/release/ChineseTrio/HG005_NA24631_son/NISTv4.2.1/GRCh38/) with Illumina's hap.py script (v0.3.15) (Krusche et al. 2019) and RTG's vcfeval (v3.12.1) (Cleary et al. 2015) as the comparison engine. The hap...
  9. ...A sheep pan reveals the spectrum of structural variations and their effects on tail phenotypes Ran Li1,15, Mian Gong1,15, Xinmiao Zhang1,15, Fei Wang1,15, Zhenyu Liu1,15, Lei Zhang1,15, Qimeng Yang1, Yuan Xu1, Mengsi Xu2, Huanhuan Zhang1, Yunfeng Zhang2, Xuelei Dai1, Yuanpeng Gao1, Zhuangbiao Zhang...
  10. ...A sheep pan reveals the spectrum of structural variations and their effects on tail phenotypes Ran Li,1,15 Mian Gong,1,15 Xinmiao Zhang,1,15 Fei Wang,1,15 Zhenyu Liu,1,15 Lei Zhang,1,15 Qimeng Yang,1 Yuan Xu,1 Mengsi Xu,2 Huanhuan Zhang,1 Yunfeng Zhang,2 Xuelei Dai,1 Yuanpeng Gao,1 Zhuangbiao Zhang...
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