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    Tytuł:
    Assessing structural variation in a personal genome-towards a human reference diploid genome.
    Autorzy:
    English AC; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Salerno WJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Hampton OA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Gonzaga-Jauregui C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Ambreth S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Ritter DI; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Beck CR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Davis CF; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Dahdouli M; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Ma S; DNAnexus, Mountain View, CA, 94040, USA. .
    Carroll A; DNAnexus, Mountain View, CA, 94040, USA. .
    Veeraraghavan N; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Bruestle J; Spiral Genetics Inc, Seattle, WA, 98117, USA. .
    Drees B; Spiral Genetics Inc, Seattle, WA, 98117, USA. .
    Hastie A; BioNano Genomics Inc, San Diego, CA, 92121, USA. .
    Lam ET; BioNano Genomics Inc, San Diego, CA, 92121, USA. .
    White S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Mishra P; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Wang M; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Han Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Zhang F; Collaborative Innovation Center of Genetics and Development, School of Life Sciences, Fudan University, Shanghai, 200438, China. .
    Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Wheeler DA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Reid JG; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Rogers J; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Sabo A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Worley KC; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA. .; Texas Children's Hospital, Houston, TX, 77030, USA. .
    Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .; Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX, 77030, USA. .
    Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Pokaż więcej
    Źródło:
    BMC genomics [BMC Genomics] 2015 Apr 11; Vol. 16, pp. 286. Date of Electronic Publication: 2015 Apr 11.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural
    MeSH Terms:
    Genome, Human*
    Genomic Structural Variation*
    Sequence Analysis, DNA/*methods
    Computational Biology ; Databases, Genetic ; Diploidy ; Humans ; Software
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations.
    Autorzy:
    Wang M; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Beck CR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .
    English AC; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Meng Q; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Buhay C; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Han Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Doddapaneni HV; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Yu F; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .; Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX, 77030, USA. .
    Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .
    Pokaż więcej
    Źródło:
    BMC genomics [BMC Genomics] 2015 Mar 19; Vol. 16, pp. 214. Date of Electronic Publication: 2015 Mar 19.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Genomics/*methods
    Chromosome Aberrations ; Gene Library ; Gene Rearrangement ; Genetic Association Studies/methods ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Workflow
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-2 z 2

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