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  1. ...A -wide survey reveals a diverse array of enhancers coordinates the Drosophila 1 innate immune response 2 3 Lianne B. Cohen1, 2, Tamara Hadzic2, 3, Caitlin Sauer1, 2, Julia R. Gibbs1, 2, Zeba Wunderlich1, 2, 3, 4 4* 5 1. Department of Biology, Boston University, Boston, MA 02215, USA 6 2...
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  2. ...These authors contributed equally as first authors to this work. ↵14 These authors contributed equally as last authors to this work. Corresponding author: mschweig@uni-koeln.deAbstractMutations in splicing factor 3B subunit 1 (SF3B1) frequently occur in patients with chronic lymphocytic leukemia (CLL...
  3. ...window Figure 6. The performance of DeltaSplice and baseline methods in predicting splicing-altering mutations at sQTLs. GTEx brain sQTLs were used as foreground, and common SNPs were used as background. Only variants ≤200 bp from cassette exons were used for analysis. Foreground and background variants...
  4. ...for Evolutionary Biology, 24306 Plön, Germany Corresponding author: elcortegano@protonmail.comAbstractAll forms of genetic variation originate from new mutations, making it crucial to understand their rates and mechanisms. Here, we use long-read sequencing from Pacific Biosciences (PacBio) to investigate de novo...
  5. ...stem cell–derived SOD1E100G MNs and shows that dysregulation of VGF, INA, and PENK is a strong disease predictor across species and SOD1 mutations. Our study reveals MN population-specific gene expression and temporal disease-induced regulation that together provide a basis to explain ALS selective...
  6. .... Mutat. 17 : 439 – 474 . ↵ Xiao W. , Stern D. , Jain M. , Huber C.G. , Oefner P.J. ( 2001 ) Multiplex DNA variation analysis by capillary denaturing high-performance liquid chromatography and laser-induced fluorescence detection. BioTechniques 30 : 1332 – 1338 . Temperature-Modulated Array High-Performance...
  7. ....keightley@ed.ac.ukAbstractGenetic variation originates from several types of spontaneous mutation, including single-nucleotide substitutions, short insertions and deletions (indels), and larger structural changes. Structural mutations (SMs) drive evolution and are thought to play major roles in evolutionary adaptation, speciation...
  8. ...Figure 6. Multiplex de Bruijn graph produced by LJA for CAMP's smoothed and virtual reads. We generated smoothed reads based on mutations identified by NaiveFreq at p = 1%. This is a MetaScope visualization (Fedarko et al. 2017) of the GFA file produced by LJA. Gray pentagons (nodes in this visualization...
  9. ...alignment from trios using IGV to check the linkage of DNMs and adjacent variants and validate genotype phasing results and inferred the parent of origin for phased DNMs.Mutational spectra identificationBased on SnpEff (Cingolani et al. 2012) and the guppy reference v.99 (Künstner et al. 2016), we were able...
  10. ...Supplemental Figs. S14–S22 and Supplemental Data File S2. SNPs were genotyped using the same pipeline (for details, see Supplemental Methods).To genotype structural variants, we first compared the performance of different SV genotyping algorithms using simulated data. We simulated SVs by modifying the N...
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