Searching journal content for articles similar to Maksimov et al. 33 (5): 689.

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  1. ...copy number. A lower RMSE indicates that a method produces more accurate predictions. We sampled a subset of 30 TR loci identified by Tandem Repeats Finder (TRF) with motif lengths between 2 and 20 bp (Benson 1999) and simulated and reference-aligned short-read paired-end WGS samples with expansions...
  2. ...to measure extreme length values (e.g., >250 CGG for FMR1 repeats) (Chen et al. 2011). While genotyping software has facilitated the simultaneous detection of multiple tandem repeats using short reads, the repeat lengths require sufficient coverage at the locus and are estimated rather than precisely...
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  3. ...Institute, Kansas City, Missouri 64108, USA; 4Victor Phillip Dahdaleh Institute of Genomic Medicine at McGill University, Montréal, Québec H3A 0G1, Canada Corresponding authors: david.lougheed@mail.mcgill.ca, guil.bourque@mcgill.caAbstractVariation in short tandem repeats (STRs) is implicated in Mendelian...
  4. ...↵2 Present address: Admera Health, South Plainfield, NJ 07080, USA Corresponding author: andrew.sharp@mssm.eduAbstractShort tandem repeats (STRs) contribute significantly to genetic diversity in humans, including disease-causing variation. Although the effect of STR variation on gene expression has...
  5. ...-wide assay for repeat expansion disorders by measuring exact repeat lengths and somatic instability across multiple loci simultaneously.Short tandem repeats (STRs) are common repeats of a particular k-mer of 1–6 bp in length (Tankard et al. 2018). More than a million cataloged STR loci make up ∼3...
  6. ...of how animals fight 32 infections. 33 Key words 34 Drosophila immunity/Immune-responsive enhancer/STARR-seq 35 36 Running Title 37 Genome-wide survey of fly immune enhancers 38 39 Introduction 40 When encountering pathogenic microbes, animals must regulate an effective immune response 41 to survive...
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  7. ...of variation length was shown using the hap1 as reference, and ordinate numbers were logarithmically transformed. (C) Genome-wide annotation of deletion and insertion mutations smaller than 50 bp.We subsequently analyzed the expression and functional differences between alleles within the haplotypes...
  8. ...for repeat expansion diseases, spinocerebellar ataxia 6 (SCA6) and 12 (SCA12). Splicing alterations by these spl-TRs were compatible with those observed in SCA6 and SCA12. Thus, our comprehensive spl-TR catalog may help elucidate the pathomechanism of genetic diseases.Tandem repeats (TRs) are DNA sequences...
  9. ...length as a function of the location of the midpoint of each fragment and colored the points based on their local density. The result is a near-nucleotide-resolution -wide view of chromatin occupancy for each deletion strain (Fig. 1D–F).View larger version: In this window In a new window Figure 1. Genome-wide...
  10. ...k-mer cross-species profiling reveals taxon-specific TE expansions accompanied 1 by KZFP co-option and functional impacts in ruminants 2 3 Pengju Zhao1,2*, Jiayi He1,2, Chen Peng1,2, Yuelang Zhang1,2, Chong Wang1,2, 4 Dongyou Yu1,2, Lingzhao Fang3*, Zhengguang Wang1,2* 5 6 1Hainan Institute...
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