Sarah B Ng

Summary

Affiliation: University of Washington
Country: USA

Publications

  1. pmc Targeted capture and massively parallel sequencing of 12 human exomes
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA
    Nature 461:272-6. 2009
  2. pmc Exome sequencing identifies the cause of a mendelian disorder
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Genet 42:30-5. 2010
  3. pmc Exome-wide DNA capture and next generation sequencing in domestic and wild species
    Ted Cosart
    Department of Computer Science, University of Montana, Missoula, MT, USA
    BMC Genomics 12:347. 2011
  4. pmc Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
    Mark C Hannibal
    Department of Pediatrics, University of Washington, Seattle, 98195, USA
    Am J Med Genet A 155:1511-6. 2011
  5. doi request reprint Exome sequencing as a tool for Mendelian disease gene discovery
    Michael J Bamshad
    Department of Pediatrics, University of Washington, Health Sciences Building RR349, 1959 NE Pacific Street, Seattle, Washington 98195 6320, USA
    Nat Rev Genet 12:745-55. 2011
  6. pmc Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Genet 42:790-3. 2010
  7. pmc Targeted enrichment of specific regions in the human genome by array hybridization
    Catherine Igartua
    University of Washington, Seattle, Washington, USA
    Curr Protoc Hum Genet . 2010
  8. pmc Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
    Brian J O'Roak
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA
    Nat Genet 43:585-9. 2011
  9. doi request reprint Methods for genomic partitioning
    Emily H Turner
    Department of Genome Sciences, University of Washington, Seattle, Washington 98195 5065, USA
    Annu Rev Genomics Hum Genet 10:263-84. 2009
  10. pmc Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers
    Akash Kumar
    Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA
    Proc Natl Acad Sci U S A 108:17087-92. 2011

Collaborators

Detail Information

Publications14

  1. pmc Targeted capture and massively parallel sequencing of 12 human exomes
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA
    Nature 461:272-6. 2009
    ..This strategy may be extendable to diseases with more complex genetics through larger sample sizes and appropriate weighting of non-synonymous variants by predicted functional impact...
  2. pmc Exome sequencing identifies the cause of a mendelian disorder
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Genet 42:30-5. 2010
    ..Exome sequencing of a small number of unrelated affected individuals is a powerful, efficient strategy for identifying the genes underlying rare mendelian disorders and will likely transform the genetic analysis of monogenic traits...
  3. pmc Exome-wide DNA capture and next generation sequencing in domestic and wild species
    Ted Cosart
    Department of Computer Science, University of Montana, Missoula, MT, USA
    BMC Genomics 12:347. 2011
    ..indicus, and Bison bison (wild bison). Our capture array has probes for 16,131 exons in 2,570 genes, including 203 candidate genes with known function and of interest for their association with disease and other fitness traits...
  4. pmc Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
    Mark C Hannibal
    Department of Pediatrics, University of Washington, Seattle, 98195, USA
    Am J Med Genet A 155:1511-6. 2011
    ..These results are important for understanding the phenotypic consequences of MLL2 mutations for individuals and their families as well as for providing a basis for the identification of additional genes for Kabuki syndrome...
  5. doi request reprint Exome sequencing as a tool for Mendelian disease gene discovery
    Michael J Bamshad
    Department of Pediatrics, University of Washington, Health Sciences Building RR349, 1959 NE Pacific Street, Seattle, Washington 98195 6320, USA
    Nat Rev Genet 12:745-55. 2011
    ..These advances also set the stage for applying exome and whole-genome sequencing to facilitate clinical diagnosis and personalized disease-risk profiling...
  6. pmc Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Genet 42:790-3. 2010
    ..Our results strongly suggest that mutations in MLL2 are a major cause of Kabuki syndrome...
  7. pmc Targeted enrichment of specific regions in the human genome by array hybridization
    Catherine Igartua
    University of Washington, Seattle, Washington, USA
    Curr Protoc Hum Genet . 2010
    ....
  8. pmc Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
    Brian J O'Roak
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA
    Nat Genet 43:585-9. 2011
    ..Our results show that trio-based exome sequencing is a powerful approach for identifying new candidate genes for ASDs and suggest that de novo mutations may contribute substantially to the genetic etiology of ASDs...
  9. doi request reprint Methods for genomic partitioning
    Emily H Turner
    Department of Genome Sciences, University of Washington, Seattle, Washington 98195 5065, USA
    Annu Rev Genomics Hum Genet 10:263-84. 2009
    ..The successful development of genomic partitioning strategies will be key to taking full advantage of massively parallel sequencing, at least until resequencing of complete mammalian genomes becomes widely affordable...
  10. pmc Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers
    Akash Kumar
    Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA
    Proc Natl Acad Sci U S A 108:17087-92. 2011
    ..Our results also suggest that increasingly deep catalogs of human germline variation may challenge the necessity of sequencing matched tumor-normal pairs...
  11. pmc Massively parallel sequencing and rare disease
    Sarah B Ng
    Department of Genome Sciences, University of Washington School of Medicine, Seattle WA 98195, USA
    Hum Mol Genet 19:R119-24. 2010
    ..Here, we review the recent literature in the use of high-throughput sequence data and its analysis in the discovery of causal mutations for rare disorders...
  12. pmc Trans genomic capture and sequencing of primate exomes reveals new targets of positive selection
    Renee D George
    Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA
    Genome Res 21:1686-94. 2011
    ..These results demonstrate the power of second-generation sequencing in comparative genomics and greatly expand the repertoire of available primate coding sequences...
  13. pmc Haplotype-resolved genome sequencing of a Gujarati Indian individual
    Jacob O Kitzman
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA
    Nat Biotechnol 29:59-63. 2011
    ..This method also facilitates the analysis of structural variation, for example, to anchor novel insertions to specific locations and haplotypes...
  14. pmc Next generation sequence analysis for mitochondrial disorders
    Valeria Vasta
    Seattle Children s Research Institute, 1900 9th Ave, Seattle, WA 98101, USA
    Genome Med 1:100. 2009
    ..The large numbers of potential culprit genes, together with the little guidance offered by most clinical phenotypes as to which gene may be causative, are a great challenge for the molecular diagnosis of these disorders...