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DONNA MUZNY to Software

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This is a "connection" page, showing publications DONNA MUZNY has written about Software.
DONNA MUZNY
Connection Strength
0.622
Software
  1. HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic Acids Res. 2024 Feb 28; 52(4):e18.
    View in: PubMed
    Score: 0.140
  2. xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments. Gigascience. 2022 12 28; 12.
    View in: PubMed
    Score: 0.129
  3. Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med. 2019 09; 21(9):2135-2144.
    View in: PubMed
    Score: 0.099
  4. Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline. BMC Bioinformatics. 2014 Jan 29; 15:30.
    View in: PubMed
    Score: 0.070
  5. Neptune: an environment for the delivery of genomic medicine. Genet Med. 2021 10; 23(10):1838-1846.
    View in: PubMed
    Score: 0.029
  6. Mapping and characterization of structural variation in 17,795 human genomes. Nature. 2020 07; 583(7814):83-89.
    View in: PubMed
    Score: 0.027
  7. Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. Genet Med. 2018 08; 20(8):855-866.
    View in: PubMed
    Score: 0.023
  8. Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children. Obesity (Silver Spring). 2017 07; 25(7):1270-1276.
    View in: PubMed
    Score: 0.022
  9. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 06 02; 98(6):1051-1066.
    View in: PubMed
    Score: 0.020
  10. Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics. 2015 Apr 11; 16:286.
    View in: PubMed
    Score: 0.019
  11. Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet. 2013 Apr; 9(4):e1003443.
    View in: PubMed
    Score: 0.016
  12. Mind the gap: upgrading genomes with Pacific Biosciences RS long-read sequencing technology. PLoS One. 2012; 7(11):e47768.
    View in: PubMed
    Score: 0.016
  13. The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008 Apr 17; 452(7189):872-6.
    View in: PubMed
    Score: 0.012
Connection Strength

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Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.