Clinical genomics /

Detalles Bibliográficos
Clasificación:Libro Electrónico
Otros Autores: Kulkarni, Shashikant (Editor ), Pfeifer, John D. (Editor )
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Amsterdam : Elsevier/Academic Press, [2015]
Temas:
Genomics.
Medical genetics.
Clinical medicine.
Genomics
Genetics, Medical
Clinical Medicine
G�enomique.
G�en�etique m�edicale.
M�edecine clinique.
SCIENCE > Life Sciences > Biochemistry.
Clinical medicine
Medical genetics
Internet Resources.
Acceso en línea:Texto completo
Tabla de Contenidos:
  • Overview of technical aspects and chemistries of next-generation sequencing / Ian S. Hagemann
  • Clinical genome sequencing / Tina M. Hambuch, John Mayfield, Shankar Ajay, Michelle Hogue, Carri-Lyn Mead and Erica Ramos
  • Targeted hybrid capture methods / Elizabeth C. Chastain
  • Amplification-based methods / Marina N. Nikiforova, William A. Laframboise and Yuri E. Nikiforov
  • Emerging DNA sequencing technologies / Shashikant Kulkarni and John Pfeifer
  • RNA-sequencing and methylome analysis / Shamika Ketkar and Shashikant Kulkarni
  • Base calling, read mapping, and coverage analysis / Paul Cliften
  • Single nucleotide variant detection using next generation sequencing / David H. Spencer, Bin Zhang and John Pfeifer
  • Insertions and deletions (indels) / Jennifer K. Sehn
  • Translocation detection using next-generation sequencing / Haley Abel, John Pfeifer and Eric Duncavage
  • Copy number variant detection using next-generation sequencing / Alex Nord, Stephen J. Salipante and Colin Pritchard
  • Reference databases for disease associations / Wendy S. Rubinstein, Deanna M. Church and Donna R. Maglott
  • Reporting of clinical genomics test results / Kristina A. Roberts, Rong Mao, Brendan D. O'Fallon and Elaine Lyon
  • Reporting software / Rakesh Nagarajan
  • Constitutional diseases: amplification-based next-generation sequencing / Vanessa L. Horner and Madhuri R. Hegde
  • Targeted hybrid capture for inherited disease panels / Sami S. Amr and Birgit Funke
  • Constitutional disorders: whole exome and whole genome sequencing / Benjamin D. Solomon
  • Somatic diseases (cancer): amplification-based next-generation sequencing / Fengqi Chang, Geoffrey L. Liu, Cindy J. Liu and Marilyn M. Li
  • Targeted hybrid capture for somatic mutation detection in the clinic / Catherine E. Cottrell, Andrew J. Bredemeyer and Hussam Al-Kateb
  • Somatic diseases (cancer): whole exome and whole genome sequencing / Jennifer K. Sehn
  • Assay validation / Amy S. Gargis, Lisa Kalman and Ira M. Lubin
  • Regulatory considerations related to clinical next generation sequencing / Shashikant Kulkarni and John Pfeifer
  • Genomic reference materials for clinical applications / Justin Zook and Marc Salit
  • Ethical challenges to next-generation sequencing / Stephanie Solomon
  • Legal issues / Roger D. Klein
  • Billing and reimbursement / Kris Rickhoff, Andrew Drury and John Pfeifer.

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